Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values
SAMD11	148398	broad.mit.edu	37	1	879333	879333	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:879333G>A	uc001abw.1	+	14	1926	c.1846G>A	c.(1846-1848)GTG>ATG	p.V616M	SAMD11_uc001abx.1_Missense_Mutation_p.V479M	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	616						nucleus					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CAGCTTCCCCGTGGCTCTGCC	0.687												
AGRN	375790	broad.mit.edu	37	1	984699	984699	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:984699G>A	uc001ack.1	+	25	4432	c.4382G>A	c.(4381-4383)CGG>CAG	p.R1461Q		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	1461	Laminin G-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GAGCTGTCCCGGCACTGGCGC	0.687												
SDF4	51150	broad.mit.edu	37	1	1164062	1164062	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:1164062G>A	uc001adh.3	-	2	441	c.112C>T	c.(112-114)CCT>TCT	p.P38S	SDF4_uc001adi.3_Missense_Mutation_p.P38S|SDF4_uc009vjv.2_Intron|SDF4_uc009vjw.2_RNA	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4 isoform 2	38					cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|calcium ion binding|identical protein binding|protein binding			upper_aerodigestive_tract(1)|large_intestine(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TGGTTGGCAGGCCGTGCAGAC	0.647												
SCNN1D	6339	broad.mit.edu	37	1	1222558	1222558	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:1222558T>C	uc001adu.1	+	8	1321	c.697T>C	c.(697-699)TAC>CAC	p.Y233H	SCNN1D_uc001adt.1_Missense_Mutation_p.Y397H|SCNN1D_uc001adw.2_Missense_Mutation_p.Y299H|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Missense_Mutation_p.Y233H	NM_002978	NP_002969			sodium channel, nonvoltage-gated 1, delta												0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCAGGACTGGTACCACTTCCA	0.642												
VWA1	64856	broad.mit.edu	37	1	1374664	1374664	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:1374664T>C	uc001afs.2	+	3	1055	c.835T>C	c.(835-837)TAC>CAC	p.Y279H	VWA1_uc001afr.2_Missense_Mutation_p.Y67H	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	279	Fibronectin type-III 1.					basement membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGACACGGACTACGACGTGGC	0.736												
GNB1	2782	broad.mit.edu	37	1	1721996	1721996	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:1721996C>T	uc001aif.2	-	9	869	c.537G>A	c.(535-537)ACG>ACA	p.T179T	GNB1_uc009vky.2_Silent_p.T79T	NM_002074	NP_002065	P62873	GBB1_HUMAN	guanine nucleotide-binding protein, beta-1	179					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GTCCGGTAAACGTGGTCGTCT	0.547												
KIAA1751	85452	broad.mit.edu	37	1	1902126	1902126	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:1902126G>A	uc001aim.1	-	10	1174	c.1018C>T	c.(1018-1020)CGG>TGG	p.R340W	KIAA1751_uc009vkz.1_Missense_Mutation_p.R340W	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	340	Potential.									pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TCCTGGCGCCGGCGCTGGTGG	0.682												
GABRD	2563	broad.mit.edu	37	1	1961127	1961127	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:1961127G>A	uc001aip.2	+	8	1080	c.985G>A	c.(985-987)GCC>ACC	p.A329T		NM_000815	NP_000806	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	329	Helical; (Probable).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGTGGAGTACGCCTTTGCTCA	0.612												
SKI	6497	broad.mit.edu	37	1	2161173	2161173	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:2161173G>A	uc001aja.3	+	1	1040	c.968G>A	c.(967-969)CGG>CAG	p.R323Q		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	323					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CGGGTGCCCCGGGTGAGTGGC	0.657												
SKI	6497	broad.mit.edu	37	1	2234791	2234791	+	Missense_Mutation	SNP	C	C	T	rs75280988	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:2234791C>T	uc001aja.3	+	3	1235	c.1163C>T	c.(1162-1164)GCG>GTG	p.A388V		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	388					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GCAGTGTCAGCGAGTGAGAAA	0.617												
PLCH2	9651	broad.mit.edu	37	1	2419116	2419116	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:2419116C>T	uc001aji.1	+	8	1468	c.1194C>T	c.(1192-1194)GAC>GAT	p.D398D	PLCH2_uc010nyz.1_Silent_p.D186D|PLCH2_uc009vle.1_Silent_p.D186D|PLCH2_uc001ajj.1_Silent_p.D186D|PLCH2_uc001ajk.1_Silent_p.D186D	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	398	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TCTTCAAAGACGTCATTGAAA	0.592												
PRDM16	63976	broad.mit.edu	37	1	3328550	3328550	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:3328550G>A	uc001akf.2	+	9	1869	c.1789G>A	c.(1789-1791)GAC>AAC	p.D597N	PRDM16_uc001akc.2_Missense_Mutation_p.D597N|PRDM16_uc001akd.2_Missense_Mutation_p.D597N|PRDM16_uc001ake.2_Missense_Mutation_p.D597N|PRDM16_uc009vlh.2_Missense_Mutation_p.D298N	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	597					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CAGGAGCAGCGACATGTCGGA	0.657			T	EVI1	MDS|AML							
PRDM16	63976	broad.mit.edu	37	1	3328729	3328729	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:3328729G>A	uc001akf.2	+	9	2048	c.1968G>A	c.(1966-1968)CCG>CCA	p.P656P	PRDM16_uc001akc.2_Silent_p.P656P|PRDM16_uc001akd.2_Silent_p.P656P|PRDM16_uc001ake.2_Silent_p.P656P|PRDM16_uc009vlh.2_Silent_p.P357P	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	656					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGGCGCCCCCGGGGGCCCCGA	0.692			T	EVI1	MDS|AML							
PRDM16	63976	broad.mit.edu	37	1	3328745	3328745	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:3328745G>A	uc001akf.2	+	9	2064	c.1984G>A	c.(1984-1986)GTG>ATG	p.V662M	PRDM16_uc001akc.2_Missense_Mutation_p.V662M|PRDM16_uc001akd.2_Missense_Mutation_p.V662M|PRDM16_uc001ake.2_Missense_Mutation_p.V662M|PRDM16_uc009vlh.2_Missense_Mutation_p.V363M	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	662					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCGAACAGCGTGGCCGAGGT	0.687			T	EVI1	MDS|AML							
PRDM16	63976	broad.mit.edu	37	1	3342191	3342191	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:3342191C>T	uc001akf.2	+	13	3066	c.2986C>T	c.(2986-2988)CGG>TGG	p.R996W	PRDM16_uc001akc.2_Missense_Mutation_p.R995W|PRDM16_uc001akd.2_Missense_Mutation_p.R995W|PRDM16_uc001ake.2_Missense_Mutation_p.R996W|PRDM16_uc009vlh.2_Missense_Mutation_p.R696W	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	996	C2H2-type 9.|Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GAACCTCCAGCGGCACGTCCG	0.617			T	EVI1	MDS|AML							
ARHGEF16	27237	broad.mit.edu	37	1	3391302	3391302	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:3391302G>A	uc001akg.3	+	9	1584	c.1336G>A	c.(1336-1338)GAA>AAA	p.E446K	ARHGEF16_uc001aki.2_Missense_Mutation_p.E158K|ARHGEF16_uc001akj.2_Missense_Mutation_p.E158K|ARHGEF16_uc010nzh.1_Missense_Mutation_p.E150K	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	446	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGGCCACTCCGAAAGGTACAA	0.632												
ZBTB48	3104	broad.mit.edu	37	1	6649173	6649173	+	Silent	SNP	C	C	T	rs1804904	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:6649173C>T	uc009vmc.1	+	11	2091	c.1968C>T	c.(1966-1968)CCC>CCT	p.P656P	ZBTB48_uc001anx.2_Silent_p.P656P|ZBTB48_uc009vmd.1_Silent_p.P656P|ZBTB48_uc001any.1_Silent_p.P294P	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	656						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		CCCAGCTCCCCGGCCAGAGAC	0.677												
THAP3	90326	broad.mit.edu	37	1	6692469	6692469	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:6692469G>C	uc001aoc.2	+	5	511	c.352G>C	c.(352-354)GCC>CCC	p.A118P	THAP3_uc001aod.2_Missense_Mutation_p.A117P|THAP3_uc001aoe.1_Missense_Mutation_p.A125P			Q8WTV1	THAP3_HUMAN	RecName: Full=THAP domain-containing protein 3;	118							DNA binding|metal ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGAGGCGGGGGCCGGAGAGGA	0.597												
H6PD	9563	broad.mit.edu	37	1	9305037	9305037	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:9305037G>A	uc001apt.2	+	2	317	c.44G>A	c.(43-45)GGC>GAC	p.G15D		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	15						endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCCCTTCTGGGCTGCCTGCAA	0.557												
UBE4B	10277	broad.mit.edu	37	1	10238793	10238793	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:10238793T>G	uc001aqs.3	+	26	4330	c.3617T>G	c.(3616-3618)CTG>CGG	p.L1206R	UBE4B_uc001aqr.3_Missense_Mutation_p.L1077R|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.L661R|UBE4B_uc001aqu.2_Missense_Mutation_p.L87R	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	1206					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		AAATTTAAGCTGCTCGCCGAG	0.468												
PGD	5226	broad.mit.edu	37	1	10460577	10460577	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:10460577T>A	uc001arc.2	+	3	302	c.212T>A	c.(211-213)ATC>AAC	p.I71N	PGD_uc001ard.2_5'UTR|PGD_uc010oak.1_Missense_Mutation_p.I71N|PGD_uc010oal.1_Missense_Mutation_p.I58N	NM_002631	NP_002622	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	71					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			ovary(1)	1	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CCCCGGCGGATCATCCTCCTG	0.522												
CASZ1	54897	broad.mit.edu	37	1	10713537	10713537	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:10713537G>A	uc001aro.2	-	11	2897	c.2577C>T	c.(2575-2577)CCC>CCT	p.P859P	CASZ1_uc001arp.1_Silent_p.P859P|CASZ1_uc009vmx.2_Silent_p.P883P	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	859					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGATGGAGGCGGGTGGTGCCG	0.672												
EXOSC10	5394	broad.mit.edu	37	1	11148189	11148189	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:11148189T>C	uc001asa.2	-	7	875	c.825A>G	c.(823-825)CCA>CCG	p.P275P	EXOSC10_uc001asb.2_Silent_p.P275P|EXOSC10_uc009vmy.1_Silent_p.P275P	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1	275					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			upper_aerodigestive_tract(1)	1	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CCTGGGGTTGTGGCTTTTGAA	0.388												
MTOR	2475	broad.mit.edu	37	1	11291365	11291365	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:11291365G>A	uc001asd.2	-	17	2762	c.2641C>T	c.(2641-2643)CGC>TGC	p.R881C		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	881	HEAT 3.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						ACCTCTCTGCGTGTACCCTGG	0.502												
MTOR	2475	broad.mit.edu	37	1	11297944	11297944	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:11297944T>C	uc001asd.2	-	13	2285	c.2164A>G	c.(2164-2166)AAC>GAC	p.N722D		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	722					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						AAGGCAGGGTTCATGCTACTG	0.577												
MTHFR	4524	broad.mit.edu	37	1	11860308	11860308	+	Nonsense_Mutation	SNP	G	G	A	rs121434294		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:11860308G>A	uc001atc.1	-	4	731	c.547C>T	c.(547-549)CGA>TGA	p.R183*	MTHFR_uc001atb.1_Nonsense_Mutation_p.R206*	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	183					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	AACTCACTTCGGATGTGCTTC	0.562												
MTHFR	4524	broad.mit.edu	37	1	11861228	11861228	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:11861228C>T	uc001atc.1	-	3	649	c.465G>A	c.(463-465)GCG>GCA	p.A155A	MTHFR_uc001atb.1_Silent_p.A178A	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	155					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	CTCCCCGCAGCGCCATGATGT	0.587												
VPS13D	55187	broad.mit.edu	37	1	12322018	12322018	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:12322018G>A	uc001atv.2	+	13	1616	c.1475G>A	c.(1474-1476)CGA>CAA	p.R492Q	VPS13D_uc001atw.2_Missense_Mutation_p.R492Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	492					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TATACAAAGCGAGATCATGTC	0.438												
PRDM2	7799	broad.mit.edu	37	1	14105804	14105804	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:14105804T>C	uc001avi.2	+	8	2370	c.1514T>C	c.(1513-1515)GTT>GCT	p.V505A	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.V505A|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.V262A|PRDM2_uc001avk.2_Missense_Mutation_p.V304A|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	505	C2H2-type 3.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CAGCGTAGAGTTCACGAACGT	0.478												
PRDM2	7799	broad.mit.edu	37	1	14105890	14105890	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:14105890A>G	uc001avi.2	+	8	2456	c.1600A>G	c.(1600-1602)ACC>GCC	p.T534A	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.T534A|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.T291A|PRDM2_uc001avk.2_Missense_Mutation_p.T333A|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	534				TQNVYVPSTEPEEEGEA -> PRTCMYQAQSRRGRGSR (in Ref. 4; AAA87023).		Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GGCCCAGGCCACCCAGAACGT	0.512												
PRDM2	7799	broad.mit.edu	37	1	14108082	14108082	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:14108082T>C	uc001avi.2	+	8	4648	c.3792T>C	c.(3790-3792)GAT>GAC	p.D1264D	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.D1264D|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.D1063D|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1264						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGTTAAATGATTCCTCTGAAG	0.413												
DNAJC16	23341	broad.mit.edu	37	1	15863138	15863138	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:15863138C>T	uc001aws.2	+	4	523	c.403C>T	c.(403-405)CGG>TGG	p.R135W	DNAJC16_uc001awr.1_Missense_Mutation_p.R135W|DNAJC16_uc001awt.2_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	135	Cytoplasmic (Potential).|Thioredoxin.				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			urinary_tract(1)|lung(1)|kidney(1)	3		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TTCTGAACGGCGGGACTCAAT	0.398												
AGMAT	79814	broad.mit.edu	37	1	15909692	15909692	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:15909692G>T	uc001awv.1	-	2	614	c.471C>A	c.(469-471)ACC>ACA	p.T157T	DNAJC16_uc001awu.2_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase) precursor	157					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			skin(1)	1		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CATTACCCAAGGTCAGAGGAA	0.488												
PLEKHM2	23207	broad.mit.edu	37	1	16054066	16054066	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:16054066C>T	uc010obo.1	+	9	1726	c.1499C>T	c.(1498-1500)GCT>GTT	p.A500V		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	500					Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CCTGAGGCTGCTGGCCAAGAA	0.622												
SPEN	23013	broad.mit.edu	37	1	16248846	16248846	+	Splice_Site	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:16248846T>C	uc001axk.1	+	10	2054	c.1850_splice	c.e10+2	p.R617_splice	SPEN_uc010obp.1_Splice_Site_p.R576_splice	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator						interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGAAAGAAGGTATGTATTTTA	0.244												
SPEN	23013	broad.mit.edu	37	1	16259759	16259759	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:16259759C>T	uc001axk.1	+	11	7228	c.7024C>T	c.(7024-7026)CGA>TGA	p.R2342*	SPEN_uc010obp.1_Nonsense_Mutation_p.R2301*	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2342	RID.|Interaction with MSX2 (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACGCCGCAAGCGAAACACAAA	0.512												
SPEN	23013	broad.mit.edu	37	1	16262482	16262482	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:16262482C>T	uc001axk.1	+	11	9951	c.9747C>T	c.(9745-9747)CCC>CCT	p.P3249P	SPEN_uc010obp.1_Silent_p.P3208P	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3249	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		cccctgcccccgtccctgtcc	0.408												
SPEN	23013	broad.mit.edu	37	1	16264140	16264140	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:16264140G>T	uc001axk.1	+	12	10713	c.10509G>T	c.(10507-10509)AAG>AAT	p.K3503N	SPEN_uc010obp.1_Missense_Mutation_p.K3462N	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3503	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AACTTCTGAAGGTAAGCATGA	0.517												
HSPB7	27129	broad.mit.edu	37	1	16343700	16343700	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:16343700G>A	uc001axo.2	-	2	1029	c.202C>T	c.(202-204)CGC>TGC	p.R68C	HSPB7_uc001axp.2_Missense_Mutation_p.R156C|HSPB7_uc001axq.2_Missense_Mutation_p.R160C|HSPB7_uc001axr.2_Missense_Mutation_p.R161C|HSPB7_uc001axs.2_Missense_Mutation_p.R143C|CLCNKA_uc001axt.2_5'Flank	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	cardiovascular heat shock protein	68	Required for localization to SC35 splicing speckles.				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding				0		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCGGGGCGGGCTGTGGGA	0.622												
HSPB7	27129	broad.mit.edu	37	1	16344393	16344393	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:16344393G>T	uc001axo.2	-	1	893	c.66C>A	c.(64-66)TCC>TCA	p.S22S	HSPB7_uc001axp.2_Silent_p.S110S|HSPB7_uc001axq.2_Silent_p.S110S|HSPB7_uc001axr.2_Silent_p.S110S|HSPB7_uc001axs.2_Intron|CLCNKA_uc001axt.2_5'Flank	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	cardiovascular heat shock protein	22	Required for localization to SC35 splicing speckles.|Poly-Ser.				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding				0		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		tggaagaggaggaggaagagg	0.527												
EPHA2	1969	broad.mit.edu	37	1	16459687	16459687	+	Missense_Mutation	SNP	C	C	T	rs140398645		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:16459687C>T	uc001aya.1	-	11	2178	c.2041G>A	c.(2041-2043)GTC>ATC	p.V681I		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	681	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TTGGAGATGACGCCCTCTAGG	0.617												
C1orf89	79363	broad.mit.edu	37	1	16558726	16558726	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:16558726C>T	uc001ayd.2	-	5	1016	c.594G>A	c.(592-594)GAG>GAA	p.E198E		NM_030907	NP_112169	Q9BU20	RSG1_HUMAN	hypothetical protein LOC79363	198	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding				0		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.2e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGGGCAGCTCCCAGGCCT	0.672												
C1orf144	26099	broad.mit.edu	37	1	16719757	16719757	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:16719757G>A	uc001aym.3	+	3	306	c.136G>A	c.(136-138)GTG>ATG	p.V46M	C1orf144_uc010ocb.1_Missense_Mutation_p.V26M|C1orf144_uc001ayi.3_Missense_Mutation_p.V27M|C1orf144_uc001ayk.3_Missense_Mutation_p.V26M	NM_001114600	NP_001108072	Q7Z422	CA144_HUMAN	putative MAPK activating protein PM20,PM21	46											0		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.12e-05)|Kidney(64;0.00018)|KIRC - Kidney renal clear cell carcinoma(64;0.00267)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGCCCATTGTGATTCAGGA	0.567												
CROCC	9696	broad.mit.edu	37	1	17250898	17250898	+	Missense_Mutation	SNP	G	G	A	rs146983726	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:17250898G>A	uc001azt.2	+	3	344	c.275G>A	c.(274-276)CGC>CAC	p.R92H	CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Intron	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	92	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAGCTGTCCCGCGTGGAGGAC	0.662												
ARHGEF10L	55160	broad.mit.edu	37	1	17949635	17949635	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:17949635T>C	uc001ban.2	+	12	1324	c.1165T>C	c.(1165-1167)TCC>CCC	p.S389P	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.S350P|ARHGEF10L_uc001bao.2_Missense_Mutation_p.S350P|ARHGEF10L_uc001bap.2_Missense_Mutation_p.S350P|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.S147P|ARHGEF10L_uc001baq.2_Missense_Mutation_p.S155P|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.S167P|ARHGEF10L_uc001bar.2_Missense_Mutation_p.S167P|ARHGEF10L_uc009vpf.2_5'Flank	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	389	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TGAGTGGGATTCCACCGAGAA	0.607												
ARHGEF10L	55160	broad.mit.edu	37	1	18014076	18014076	+	Silent	SNP	C	C	T	rs61749347		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:18014076C>T	uc001ban.2	+	27	3177	c.3018C>T	c.(3016-3018)TTC>TTT	p.F1006F	ARHGEF10L_uc009vpe.1_Silent_p.F967F|ARHGEF10L_uc001bao.2_Silent_p.F967F|ARHGEF10L_uc001bap.2_Silent_p.F962F|ARHGEF10L_uc001baq.2_Silent_p.F767F|ARHGEF10L_uc010ocs.1_Silent_p.F779F|ARHGEF10L_uc001bar.2_Silent_p.F709F|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	1006				F -> S (in Ref. 3; BAA91663).	regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGCAAAGCTTCGAGGCGCACC	0.642												
ARHGEF10L	55160	broad.mit.edu	37	1	18014129	18014129	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:18014129G>C	uc001ban.2	+	27	3230	c.3071G>C	c.(3070-3072)AGC>ACC	p.S1024T	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.S985T|ARHGEF10L_uc001bao.2_Missense_Mutation_p.S985T|ARHGEF10L_uc001bap.2_Missense_Mutation_p.S980T|ARHGEF10L_uc001baq.2_Missense_Mutation_p.S785T|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.S797T|ARHGEF10L_uc001bar.2_Missense_Mutation_p.S727T|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	1024					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AAGGCGGGCAGCGGCGTCTGG	0.622												
PAX7	5081	broad.mit.edu	37	1	19027170	19027170	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:19027170C>T	uc001bay.2	+	6	1408	c.810C>T	c.(808-810)GCC>GCT	p.A270A	PAX7_uc001baz.2_Silent_p.A268A|PAX7_uc010oct.1_Silent_p.A270A	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	270	Homeobox.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ACCGCCGCGCCCGTTGGCGTA	0.647			T	FOXO1A	alveolar rhabdomyosarcoma							
TAS1R2	80834	broad.mit.edu	37	1	19181075	19181075	+	Missense_Mutation	SNP	C	C	T	rs149739674		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:19181075C>T	uc001bba.1	-	3	890	c.889G>A	c.(889-891)GTG>ATG	p.V297M		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	297	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCGATCCACACGGCGCCAGTG	0.642												
AKR7A3	22977	broad.mit.edu	37	1	19611268	19611268	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:19611268T>C	uc001bbv.1	-	5	693	c.616A>G	c.(616-618)ACC>GCC	p.T206A		NM_012067	NP_036199	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3	206	NADP.				cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TACTTGCCGGTCAGCAGGCCC	0.607												
PQLC2	54896	broad.mit.edu	37	1	19652784	19652784	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:19652784C>T	uc001bby.2	+	6	780	c.428C>T	c.(427-429)GCG>GTG	p.A143V	PQLC2_uc001bbz.2_Missense_Mutation_p.A78V|PQLC2_uc001bca.2_Missense_Mutation_p.A143V|PQLC2_uc001bcb.2_Missense_Mutation_p.A32V|PQLC2_uc001bcc.2_Missense_Mutation_p.A32V	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	143	Helical; (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGGGATGGCGTGCGCCACA	0.662												
HTR6	3362	broad.mit.edu	37	1	20005157	20005157	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:20005157G>A	uc001bcl.2	+	2	1279	c.812G>A	c.(811-813)GGC>GAC	p.G271D		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	271	Helical; Name=6; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CTGACGCTGGGCATCCTGCTG	0.637												
HTR6	3362	broad.mit.edu	37	1	20005700	20005700	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:20005700G>A	uc001bcl.2	+	3	1629	c.1162G>A	c.(1162-1164)GGC>AGC	p.G388S		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	388	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	AGGCTCAGGCGGCTCCTCGGG	0.721												
UBXN10	127733	broad.mit.edu	37	1	20517261	20517261	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:20517261C>A	uc001bdb.2	+	2	291	c.207C>A	c.(205-207)GCC>GCA	p.A69A		NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	69										ovary(1)	1						CGCCTCCAGCCATTCCCTATG	0.562												
UBXN10	127733	broad.mit.edu	37	1	20517393	20517393	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:20517393G>C	uc001bdb.2	+	2	423	c.339G>C	c.(337-339)AAG>AAC	p.K113N		NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	113										ovary(1)	1						CTCTCAATAAGTATCCAGTCC	0.537												
FAM43B	163933	broad.mit.edu	37	1	20879828	20879828	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:20879828T>C	uc001bdj.2	+	1	897	c.362T>C	c.(361-363)ATG>ACG	p.M121T		NM_207334	NP_997217	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	121											0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		GGCATCCGCATGCAGCCGTGC	0.751												
PINK1	65018	broad.mit.edu	37	1	20976990	20976990	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:20976990G>A	uc001bdm.2	+	8	1646	c.1552G>A	c.(1552-1554)GCC>ACC	p.A518T	PINK1_uc001bdn.2_Missense_Mutation_p.A211T	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1 precursor	518	Cytoplasmic (Potential).				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			ovary(2)|central_nervous_system(1)	3		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACATATTCTAGCCCTGAAGAA	0.507												
EIF4G3	8672	broad.mit.edu	37	1	21167512	21167512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:21167512G>A	uc001bec.2	-	25	3986	c.3730C>T	c.(3730-3732)CAG>TAG	p.Q1244*	EIF4G3_uc010odi.1_Nonsense_Mutation_p.Q848*|EIF4G3_uc010odj.1_Nonsense_Mutation_p.Q1243*|EIF4G3_uc009vpz.2_Nonsense_Mutation_p.Q964*|EIF4G3_uc001bed.2_Nonsense_Mutation_p.Q1244*|EIF4G3_uc001bef.2_Nonsense_Mutation_p.Q1280*|EIF4G3_uc001bee.2_Nonsense_Mutation_p.Q1250*	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1244	MI.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCCACACACTGCATGGCTTCC	0.433												
ALPL	249	broad.mit.edu	37	1	21887702	21887702	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:21887702C>T	uc001bet.2	+	4	551	c.294C>T	c.(292-294)TCC>TCT	p.S98S	ALPL_uc010odn.1_Silent_p.S46S|ALPL_uc010odo.1_Silent_p.S43S|ALPL_uc010odp.1_Intron|ALPL_uc001beu.3_Silent_p.S98S	NM_000478	NP_000469	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	98					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	TGGCCCTCTCCAAGGTGAGCC	0.423												
WNT4	54361	broad.mit.edu	37	1	22447841	22447841	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:22447841G>A	uc001bfs.3	-	4	555	c.451C>T	c.(451-453)CAG>TAG	p.Q151*	WNT4_uc010odt.1_Nonsense_Mutation_p.Q88*	NM_030761	NP_110388	P56705	WNT4_HUMAN	wingless-type MMTV integration site family,	151					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			ovary(1)	1		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTGACCACTGGAAGCCTGGG	0.637												
LUZP1	7798	broad.mit.edu	37	1	23415446	23415446	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:23415446C>A	uc001bgk.2	-	5	3557	c.3173G>T	c.(3172-3174)GGG>GTG	p.G1058V	LUZP1_uc010odv.1_Missense_Mutation_p.G1058V	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	1058						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCGTACTCGCCCAGACTCTGG	0.602												
LUZP1	7798	broad.mit.edu	37	1	23417973	23417973	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:23417973G>A	uc001bgk.2	-	4	3166	c.2782C>T	c.(2782-2784)CGA>TGA	p.R928*	LUZP1_uc010odv.1_Nonsense_Mutation_p.R928*|LUZP1_uc001bgl.2_Nonsense_Mutation_p.R928*|LUZP1_uc001bgm.1_Nonsense_Mutation_p.R928*	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	928						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTCAAGTCTCGCCTACTCTTC	0.493												
HTR1D	3352	broad.mit.edu	37	1	23520194	23520194	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:23520194C>T	uc001bgn.2	-	1	1029	c.519G>A	c.(517-519)CCG>CCA	p.P173P		NM_000864	NP_000855	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D	173	Helical; Name=4; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCCAGAAGAGCGGGGGGATGG	0.597												
TCEB3	6924	broad.mit.edu	37	1	24078209	24078209	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:24078209C>A	uc001bho.2	+	4	1252	c.1192C>A	c.(1192-1194)CCA>ACA	p.P398T		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	398					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CCTAAAGACTCCAGAAGGGAA	0.463											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GRHL3	57822	broad.mit.edu	37	1	24668708	24668708	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:24668708G>A	uc001biy.2	+	9	1212	c.1166G>A	c.(1165-1167)GGC>GAC	p.G389D	GRHL3_uc001bix.2_Missense_Mutation_p.G384D|GRHL3_uc001biz.2_Missense_Mutation_p.G291D	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	384					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TGTGGCTTGGGCACTGAGCGC	0.557												
SRRM1	10250	broad.mit.edu	37	1	24996800	24996800	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:24996800G>A	uc001bjm.2	+	15	2618	c.2394G>A	c.(2392-2394)CCG>CCA	p.P798P	SRRM1_uc010oel.1_Silent_p.P810P|SRRM1_uc009vri.1_Silent_p.P727P	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	798	Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GCCCATCACCGCCAAGAGTAT	0.468												
RUNX3	864	broad.mit.edu	37	1	25245750	25245750	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:25245750G>A	uc001bjq.2	-	3	936	c.525C>T	c.(523-525)GAC>GAT	p.D175D	RUNX3_uc010oen.1_Silent_p.D175D|RUNX3_uc009vrj.2_Silent_p.D189D|RUNX3_uc001bjr.2_Silent_p.D189D	NM_004350	NP_004341	Q13761	RUNX3_HUMAN	runt-related transcription factor 3 isoform 2	175	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CCCGGGGTCCGTCCACGGTCA	0.652												
TRIM63	84676	broad.mit.edu	37	1	26384893	26384893	+	Silent	SNP	G	G	T	rs138337721		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:26384893G>T	uc001bli.1	-	5	955	c.819C>A	c.(817-819)GCC>GCA	p.A273A		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	muscle specific ring finger protein 1	273	COS.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGGAAGGTGGCTCCCCCAG	0.478												
CNKSR1	10256	broad.mit.edu	37	1	26510765	26510765	+	Silent	SNP	C	C	T	rs139381171		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:26510765C>T	uc001bln.3	+	11	1066	c.1008C>T	c.(1006-1008)AGC>AGT	p.S336S	CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Silent_p.S329S|CNKSR1_uc009vsd.2_Silent_p.S71S|CNKSR1_uc009vse.2_Silent_p.S71S|CNKSR1_uc001blo.2_Silent_p.S71S	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	336	Pro-rich.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCGGACCCAGCCCTGCCTGGA	0.612												
CATSPER4	378807	broad.mit.edu	37	1	26527938	26527938	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:26527938T>C	uc010oez.1	+	9	1293	c.1293T>C	c.(1291-1293)ACT>ACC	p.T431T	CATSPER4_uc010oey.1_Silent_p.T253T|CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	431	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CGTTGGAGACTACGTCATCCA	0.577												
ZNF683	257101	broad.mit.edu	37	1	26691291	26691291	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:26691291C>T	uc001bmg.1	-	4	864	c.746G>A	c.(745-747)CGG>CAG	p.R249Q	ZNF683_uc001bmh.1_Missense_Mutation_p.R249Q|ZNF683_uc009vsj.1_Missense_Mutation_p.R249Q	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	zinc finger protein 683	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGTCTCCCACCGAGCGCTGGG	0.647												
ARID1A	8289	broad.mit.edu	37	1	27087914	27087914	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:27087914A>G	uc001bmv.1	+	6	2574	c.2201A>G	c.(2200-2202)GAC>GGC	p.D734G	ARID1A_uc001bmt.1_Missense_Mutation_p.D734G|ARID1A_uc001bmu.1_Missense_Mutation_p.D734G|ARID1A_uc001bmw.1_Missense_Mutation_p.D351G	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	734					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCCAGTCGGACAGCATCATG	0.537			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
ZDHHC18	84243	broad.mit.edu	37	1	27175193	27175193	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:27175193C>T	uc001bnb.2	+	3	686	c.591C>T	c.(589-591)TGC>TGT	p.C197C	ZDHHC18_uc010ofh.1_Silent_p.C62C	NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	197	DHHC-type.					integral to membrane	zinc ion binding				0		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		GCTTCACCTGCAAGATGTTCC	0.592												
SFN	2810	broad.mit.edu	37	1	27189799	27189799	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:27189799G>T	uc001bnc.1	+	1	167	c.96G>T	c.(94-96)AAG>AAT	p.K32N	uc010ofi.1_RNA	NM_006142	NP_006133	P31947	1433S_HUMAN	stratifin	32					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		CCGTGGAGAAGGGCGAGGAGC	0.602												
AHDC1	27245	broad.mit.edu	37	1	27875216	27875216	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:27875216G>A	uc009vsy.2	-	6	4380	c.3411C>T	c.(3409-3411)AGC>AGT	p.S1137S	AHDC1_uc009vsz.1_Silent_p.S1137S	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1137							DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CGTTGGGCTCGCTGACGTGGC	0.582												
AHDC1	27245	broad.mit.edu	37	1	27875591	27875591	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:27875591G>A	uc009vsy.2	-	6	4005	c.3036C>T	c.(3034-3036)CCC>CCT	p.P1012P	AHDC1_uc009vsz.1_Silent_p.P1012P	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1012							DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGGCGCTGCTGGGTGAGGCAG	0.662												
AHDC1	27245	broad.mit.edu	37	1	27877978	27877978	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:27877978C>T	uc009vsy.2	-	6	1618	c.649G>A	c.(649-651)GGA>AGA	p.G217R	AHDC1_uc009vsz.1_Missense_Mutation_p.G217R|AHDC1_uc001boh.1_Missense_Mutation_p.G90R	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	217	Pro-rich.						DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCCGTGGCTCCGGGACTATGG	0.662												
FGR	2268	broad.mit.edu	37	1	27943397	27943397	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:27943397G>A	uc001boj.2	-	5	799	c.653C>T	c.(652-654)TCG>TTG	p.S218L	FGR_uc001boi.2_5'Flank|FGR_uc001bok.2_Missense_Mutation_p.S218L|FGR_uc001bol.2_Missense_Mutation_p.S218L|FGR_uc001bom.2_Missense_Mutation_p.S218L	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	218	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTCCTGCACCGAGTTGAACTG	0.373												
FAM76A	199870	broad.mit.edu	37	1	28060599	28060599	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:28060599C>T	uc001boq.2	+	4	361	c.259C>T	c.(259-261)CGC>TGC	p.R87C	FAM76A_uc009vtb.2_Missense_Mutation_p.R87C|FAM76A_uc001bor.2_Missense_Mutation_p.R121C|FAM76A_uc001bos.2_Missense_Mutation_p.R121C|FAM76A_uc001bot.2_Missense_Mutation_p.R87C|FAM76A_uc010ofm.1_Intron	NM_152660	NP_689873	Q8TAV0	FA76A_HUMAN	hypothetical protein LOC199870 isoform 3	87											0		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		TAAATGCCAGCGCTGCACAAA	0.378												
EYA3	2140	broad.mit.edu	37	1	28362100	28362100	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:28362100C>T	uc001bpi.1	-	6	481	c.316G>A	c.(316-318)GCT>ACT	p.A106T	EYA3_uc010ofs.1_Missense_Mutation_p.A53T|EYA3_uc010oft.1_Missense_Mutation_p.A106T|EYA3_uc001bpj.2_Missense_Mutation_p.A106T|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA	NM_001990	NP_001981	Q99504	EYA3_HUMAN	eyes absent 3	106					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			ovary(2)|skin(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GGGTAGACAGCATAGGGTTGA	0.423												
PHACTR4	65979	broad.mit.edu	37	1	28819566	28819566	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:28819566G>A	uc001bpw.2	+	13	2338	c.2056G>A	c.(2056-2058)GAG>AAG	p.E686K	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.E670K|PHACTR4_uc001bpy.2_Missense_Mutation_p.E696K|PHACTR4_uc001bpz.2_RNA	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	686							actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TAAAAGCTCCGAGATGGAGGT	0.383												
OPRD1	4985	broad.mit.edu	37	1	29185674	29185674	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:29185674C>T	uc001brf.1	+	2	678	c.436C>T	c.(436-438)CGC>TGC	p.R146C		NM_000911	NP_000902	P41143	OPRD_HUMAN	opioid receptor, delta 1	146	Cytoplasmic (Potential).				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	GAGTGTTGACCGCTACATCGC	0.577												
EPB41	2035	broad.mit.edu	37	1	29319963	29319963	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:29319963T>C	uc001brm.1	+	2	597	c.590T>C	c.(589-591)TTA>TCA	p.L197S	EPB41_uc001brg.1_5'UTR|EPB41_uc001brh.1_5'UTR|EPB41_uc001bri.1_Missense_Mutation_p.L197S|EPB41_uc001brj.1_5'UTR|EPB41_uc009vtk.1_Missense_Mutation_p.L197S|EPB41_uc001brk.2_Missense_Mutation_p.L197S|EPB41_uc001brl.1_Missense_Mutation_p.L197S|EPB41_uc009vtl.1_5'UTR|EPB41_uc009vtm.1_Intron	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	197					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GAAACAGAATTAAAAGCTTCC	0.378												
PTPRU	10076	broad.mit.edu	37	1	29630483	29630483	+	Missense_Mutation	SNP	C	C	T	rs144662614		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:29630483C>T	uc001bru.2	+	17	2733	c.2623C>T	c.(2623-2625)CGT>TGT	p.R875C	PTPRU_uc001brv.2_Missense_Mutation_p.R865C|PTPRU_uc001brw.2_Missense_Mutation_p.R865C|PTPRU_uc009vtq.2_Missense_Mutation_p.R865C|PTPRU_uc009vtr.2_Missense_Mutation_p.R865C	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	875	Mediates interaction with CTNNB1 (By similarity).|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCCTGCGGTGCGTGTCGCAGA	0.682												
MATN1	4146	broad.mit.edu	37	1	31189677	31189677	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:31189677G>A	uc001brz.2	-	4	784	c.750C>T	c.(748-750)CAC>CAT	p.H250H	uc001bsb.1_5'Flank|MATN1_uc001bsa.1_Silent_p.H168H	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	250	EGF-like.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TGAAGCCCTCGTGGCAGGCGC	0.632												
MATN1	4146	broad.mit.edu	37	1	31194331	31194331	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:31194331C>T	uc001brz.2	-	2	396	c.362G>A	c.(361-363)GGC>GAC	p.G121D	uc001bsb.1_RNA|MATN1_uc001bsa.1_5'Flank	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	121	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GATGGCCAGGCCGGTCATGGT	0.632												
HCRTR1	3061	broad.mit.edu	37	1	32086455	32086455	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:32086455G>A	uc009vtx.2	+	5	775	c.390G>A	c.(388-390)GTG>GTA	p.V130V	HCRTR1_uc001btb.2_5'UTR|HCRTR1_uc001btc.3_Silent_p.V44V|HCRTR1_uc001btd.2_Silent_p.V130V|HCRTR1_uc010ogl.1_Silent_p.V130V	NM_001525	NP_001516	O43613	OX1R_HUMAN	orexin receptor 1	130	Helical; Name=3; (Potential).				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				ovary(1)	1		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CTGTGTCCGTGTCAGTGGCAG	0.512												
BAI2	576	broad.mit.edu	37	1	32202210	32202210	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:32202210G>A	uc001btn.2	-	21	3448	c.3094C>T	c.(3094-3096)CGC>TGC	p.R1032C	BAI2_uc001btm.2_5'Flank|BAI2_uc001btp.1_5'UTR|BAI2_uc010ogn.1_Missense_Mutation_p.R35C|BAI2_uc010ogo.1_Missense_Mutation_p.R674C|BAI2_uc010ogp.1_Missense_Mutation_p.R965C|BAI2_uc010ogq.1_Missense_Mutation_p.R1032C|BAI2_uc001bto.2_Missense_Mutation_p.R1032C	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1032	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CGAACGAGGCGGGTGCGCATC	0.637												
BAI2	576	broad.mit.edu	37	1	32221986	32221986	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:32221986A>G	uc001btn.2	-	4	806	c.452T>C	c.(451-453)CTG>CCG	p.L151P	BAI2_uc010ogp.1_Missense_Mutation_p.L139P|BAI2_uc010ogq.1_Missense_Mutation_p.L151P|BAI2_uc001bto.2_Missense_Mutation_p.L151P|BAI2_uc001btq.1_Missense_Mutation_p.L139P|BAI2_uc010ogr.1_Missense_Mutation_p.L139P	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	151	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GTCGAAGTGCAGGAAGGTAAA	0.687												
KPNA6	23633	broad.mit.edu	37	1	32628093	32628093	+	Silent	SNP	C	C	T	rs150602159	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:32628093C>T	uc001bug.2	+	9	967	c.879C>T	c.(877-879)TCC>TCT	p.S293S	KPNA6_uc001buh.2_Silent_p.S68S|KPNA6_uc010ogx.1_Silent_p.S290S|KPNA6_uc010ogy.1_Silent_p.S298S|KPNA6_uc009vtz.2_Silent_p.S188S	NM_012316	NP_036448	O60684	IMA7_HUMAN	karyopherin alpha 6	293	ARM 6.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TCATAGACTCCGGAGTCTGCC	0.433												
YARS	8565	broad.mit.edu	37	1	33241691	33241691	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:33241691G>A	uc001bvy.1	-	13	2266	c.1478C>T	c.(1477-1479)GCT>GTT	p.A493V	YARS_uc001bvw.1_Missense_Mutation_p.A153V|YARS_uc001bvx.1_Missense_Mutation_p.A144V	NM_003680	NP_003671	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	493					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTTGAAGTCAGCCTGGACAAG	0.393												
RNF19B	127544	broad.mit.edu	37	1	33411153	33411153	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:33411153G>A	uc010oho.1	-	5	1226	c.1226C>T	c.(1225-1227)TCG>TTG	p.S409L	RNF19B_uc001bwm.3_Missense_Mutation_p.S408L|RNF19B_uc010ohp.1_Missense_Mutation_p.S408L	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform a	409						integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGCAATGACCGACAAAGTCAC	0.438												
PHC2	1912	broad.mit.edu	37	1	33799727	33799727	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:33799727T>G	uc001bxg.1	-	9	1776	c.1722A>C	c.(1720-1722)GAA>GAC	p.E574D	PHC2_uc001bxh.1_Missense_Mutation_p.E546D|PHC2_uc009vuh.1_Missense_Mutation_p.E575D|PHC2_uc001bxe.1_Missense_Mutation_p.E39D|PHC2_uc001bxf.1_Intron	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	polyhomeotic-like 2 isoform a	574	HD1.				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCACAAACCCTTCGATAACAT	0.478												
ZMYM1	79830	broad.mit.edu	37	1	35580393	35580393	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:35580393T>C	uc001bym.2	+	11	3110	c.2962T>C	c.(2962-2964)TAT>CAT	p.Y988H	ZMYM1_uc001byn.2_Missense_Mutation_p.Y988H|ZMYM1_uc010ohu.1_Missense_Mutation_p.Y969H|ZMYM1_uc001byo.2_Missense_Mutation_p.Y628H|ZMYM1_uc009vut.2_Missense_Mutation_p.Y913H	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	988						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGAGTTTGATTATTGCAAAAT	0.244												
CLSPN	63967	broad.mit.edu	37	1	36217106	36217106	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:36217106A>G	uc001bzi.2	-	10	1853	c.1773T>C	c.(1771-1773)GGT>GGC	p.G591G	CLSPN_uc009vux.2_Silent_p.G527G	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	591					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAGCTTTTCACCTGAACAGA	0.368												
MANEAL	149175	broad.mit.edu	37	1	38265771	38265771	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:38265771C>T	uc001cby.2	+	4	1351	c.1270C>T	c.(1270-1272)CGC>TGC	p.R424C	MANEAL_uc001cbx.2_3'UTR|MANEAL_uc001cbz.2_Missense_Mutation_p.R202C	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like isoform 3	424	Lumenal (Potential).					Golgi membrane|integral to membrane	hydrolase activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GACACCCACCCGCCTGTATTT	0.582												
KCNQ4	9132	broad.mit.edu	37	1	41285124	41285124	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:41285124G>A	uc001cgh.1	+	5	896	c.814G>A	c.(814-816)GAC>AAC	p.D272N	KCNQ4_uc001cgi.1_Missense_Mutation_p.D272N	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	potassium voltage-gated channel KQT-like protein	272					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CTCCTACGCCGACTCGCTCTG	0.622												
HIVEP3	59269	broad.mit.edu	37	1	41978664	41978664	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:41978664C>A	uc001cgz.3	-	8	7441	c.6228G>T	c.(6226-6228)CAG>CAT	p.Q2076H	HIVEP3_uc001cha.3_Missense_Mutation_p.Q2076H|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	2076	6 X 4 AA tandem repeats of S-P-X-[RK].				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTGACTCGGCCTGACCTGGAG	0.687												
ELOVL1	64834	broad.mit.edu	37	1	43830302	43830302	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:43830302C>T	uc001ciz.2	-	7	635	c.392G>A	c.(391-393)CGA>CAA	p.R131Q	ELOVL1_uc001cja.2_Missense_Mutation_p.R131Q|ELOVL1_uc001cjb.2_Missense_Mutation_p.R131Q|ELOVL1_uc001cjc.2_RNA|ELOVL1_uc010okh.1_Missense_Mutation_p.R104Q	NM_022821	NP_073732	Q9BW60	ELOV1_HUMAN	elongation of very long chain fatty acids-like	131					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTCTTTCTTTCGGAGAATAAA	0.517												
KIAA0467	23334	broad.mit.edu	37	1	43903310	43903310	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:43903310C>T	uc001cjk.1	+	30	4100	c.3638C>T	c.(3637-3639)GCG>GTG	p.A1213V		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2112						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AAAGGGGATGCGCTGCCCCCT	0.577												
B4GALT2	8704	broad.mit.edu	37	1	44447485	44447485	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:44447485G>A	uc001clg.2	+	3	808	c.438G>A	c.(436-438)GCG>GCA	p.A146A	B4GALT2_uc001clh.2_Silent_p.A80A|B4GALT2_uc010okl.1_Silent_p.A175A|B4GALT2_uc001cli.2_Silent_p.A146A	NM_003780	NP_003771	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	146	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	AGACGGTGGCGGTCATCATCC	0.657												
KLF17	128209	broad.mit.edu	37	1	44595272	44595272	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:44595272G>A	uc001clp.2	+	2	387	c.329G>A	c.(328-330)CGG>CAG	p.R110Q	KLF17_uc009vxf.1_Missense_Mutation_p.R73Q	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	zinc finger protein 393	110					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					ACTCCTTCCCGGATGATTTAC	0.552												
RNF220	55182	broad.mit.edu	37	1	44878019	44878019	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:44878019G>A	uc001clv.1	+	2	610	c.250G>A	c.(250-252)GCC>ACC	p.A84T	RNF220_uc001clw.1_Missense_Mutation_p.A84T	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	84				A -> V (in Ref. 3; AAH98300).	protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						AGGCACTTTTGCCAATCGTGA	0.493												
BEST4	266675	broad.mit.edu	37	1	45250346	45250346	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:45250346G>A	uc001cmm.2	-	8	1152	c.1103C>T	c.(1102-1104)GCC>GTC	p.A368V		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	bestrophin 4	368	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CAGAGACTCGGCCGCCGTGGC	0.652												
ZSWIM5	57643	broad.mit.edu	37	1	45553798	45553798	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:45553798C>T	uc001cnd.2	-	2	935	c.707G>A	c.(706-708)GGC>GAC	p.G236D		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	236	SWIM-type.						zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					GTTCCCACAGCCACATGTCAC	0.473												
CCDC17	149483	broad.mit.edu	37	1	46087329	46087329	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:46087329G>A	uc010olt.1	-	9	1313	c.1165C>T	c.(1165-1167)CCT>TCT	p.P389S	CCDC17_uc009vxy.2_Missense_Mutation_p.P357S|CCDC17_uc010ols.1_Missense_Mutation_p.P380S|CCDC17_uc001com.3_Missense_Mutation_p.P210S|CCDC17_uc001con.3_RNA|CCDC17_uc009vxz.2_Intron	NM_001114938	NP_001108410	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	389										ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TAGGGTGCAGGGCCCAGCATG	0.602												
RAD54L	8438	broad.mit.edu	37	1	46726490	46726490	+	Missense_Mutation	SNP	C	C	T	rs149246216		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:46726490C>T	uc009vye.2	+	8	683	c.569C>T	c.(568-570)ACG>ATG	p.T190M	RAD54L_uc001cpl.2_Missense_Mutation_p.T190M|RAD54L_uc001cpm.1_Missense_Mutation_p.T10M	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	190	Helicase ATP-binding.|ATP (Potential).				meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CTAGGAAAGACGCTGCAGTGC	0.547								Direct_reversal_of_damage|Homologous_recombination				
LRRC41	10489	broad.mit.edu	37	1	46746884	46746884	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:46746884C>T	uc001cpn.2	-	5	1713	c.1669G>A	c.(1669-1671)GTT>ATT	p.V557I	LRRC41_uc010omb.1_Missense_Mutation_p.V557I	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	557										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					GGGTGGTCAACACGAATAGAG	0.592												
STIL	6491	broad.mit.edu	37	1	47717513	47717513	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:47717513T>C	uc001crc.1	-	17	3314	c.3159A>G	c.(3157-3159)TTA>TTG	p.L1053L	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.L1007L|STIL_uc010omo.1_Silent_p.L1036L|STIL_uc001crd.1_Silent_p.L1054L|STIL_uc001cre.1_Silent_p.L1053L	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1053					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CATTGGGGCTTAAGCCGCTCA	0.438												
DMRTA2	63950	broad.mit.edu	37	1	50885025	50885025	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:50885025C>A	uc010ona.1	-	2	1037	c.941G>T	c.(940-942)CGG>CTG	p.R314L	DMRTA2_uc010onb.1_Missense_Mutation_p.R314L	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	314	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0						CAGCGGCGTCCGCTGCCGTGG	0.697												
TTC39A	22996	broad.mit.edu	37	1	51755785	51755785	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:51755785T>C	uc001csl.2	-	16	1598	c.1493A>G	c.(1492-1494)GAG>GGG	p.E498G	TTC39A_uc001csk.2_Missense_Mutation_p.E463G|TTC39A_uc010ond.1_Missense_Mutation_p.E435G|TTC39A_uc010one.1_Missense_Mutation_p.E462G|TTC39A_uc010onf.1_Missense_Mutation_p.E466G|TTC39A_uc001csj.2_Missense_Mutation_p.E99G	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A isoform 2	498							binding			skin(1)	1						CACTGAGTACTCGTTCTCTGA	0.343												
EPS15	2060	broad.mit.edu	37	1	51934212	51934212	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:51934212G>A	uc001csq.1	-	5	334	c.242C>T	c.(241-243)GCA>GTA	p.A81V	EPS15_uc009vyz.1_Missense_Mutation_p.A81V	NM_001981	NP_001972	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway	81	EH 1.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding			lung(1)|kidney(1)	2						CTGGGCACATGCCACAAGACG	0.368			T	MLL	ALL							
EPS15	2060	broad.mit.edu	37	1	51938529	51938529	+	Splice_Site	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:51938529A>G	uc001csq.1	-	3	257	c.165_splice	c.e3+1	p.K55_splice	EPS15_uc009vyz.1_Splice_Site_p.K55_splice	NM_001981	NP_001972	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway						cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding			lung(1)|kidney(1)	2						AACGAATACTACCTTTCCAAG	0.368			T	MLL	ALL							
FAM151A	338094	broad.mit.edu	37	1	55078225	55078225	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:55078225G>T	uc001cxn.2	-	5	866	c.734C>A	c.(733-735)CCT>CAT	p.P245H	ACOT11_uc001cxm.1_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	hypothetical protein LOC338094	245						integral to membrane					0						AGACCGTACAGGGAAGGTGAC	0.607												
C1orf177	163747	broad.mit.edu	37	1	55282759	55282759	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:55282759G>A	uc001cyb.3	+	9	1202	c.1148G>A	c.(1147-1149)CGC>CAC	p.R383H	C1orf177_uc001cya.3_Missense_Mutation_p.R383H	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	383											0						GGATCCAAACGCTACCTCTCA	0.617												
PCSK9	255738	broad.mit.edu	37	1	55518043	55518043	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:55518043G>A	uc001cyf.1	+	4	907	c.616G>A	c.(616-618)GAG>AAG	p.E206K	PCSK9_uc010ool.1_RNA|PCSK9_uc010oom.1_RNA	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	206	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			ovary(2)|central_nervous_system(1)|skin(1)	4						CACCGACTTCGAGAATGTGCC	0.607												
PPAP2B	8613	broad.mit.edu	37	1	57002717	57002717	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:57002717A>T	uc001cyj.1	-	3	708	c.207T>A	c.(205-207)AAT>AAA	p.N69K		NM_177414	NP_803133	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	69	Lumenal (Potential).				canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity				0						TGCTCTCATCATTGCAGTAAA	0.527												
MYSM1	114803	broad.mit.edu	37	1	59125788	59125788	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:59125788T>C	uc009wab.1	-	20	2391	c.2368A>G	c.(2368-2370)AAT>GAT	p.N790D	uc001cza.2_5'Flank|MYSM1_uc009waa.1_Missense_Mutation_p.N196D|MYSM1_uc001czc.2_RNA	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	790					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(1)	1	all_cancers(7;9.36e-06)					ATAAAGCAATTGGTCACTTTG	0.333												
INADL	10207	broad.mit.edu	37	1	62365309	62365309	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:62365309C>A	uc001dab.2	+	23	3300	c.3186C>A	c.(3184-3186)CAC>CAA	p.H1062Q	INADL_uc009waf.1_Missense_Mutation_p.H1062Q|INADL_uc001daa.2_Missense_Mutation_p.H1062Q|INADL_uc001dad.3_Missense_Mutation_p.H759Q|INADL_uc001dac.2_RNA	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1062					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						ATTTTAGCCACTGGGGTCCAC	0.393												
KANK4	163782	broad.mit.edu	37	1	62738950	62738950	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:62738950A>C	uc001dah.3	-	3	2203	c.1826T>G	c.(1825-1827)CTG>CGG	p.L609R	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	609										ovary(3)|skin(2)|lung(1)	6						CGACAGCAGCAGGTTGAGGGA	0.642												
CACHD1	57685	broad.mit.edu	37	1	65143987	65143987	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:65143987G>A	uc001dbo.1	+	23	3190	c.3085G>A	c.(3085-3087)GCA>ACA	p.A1029T	CACHD1_uc001dbp.1_Missense_Mutation_p.A784T|CACHD1_uc001dbq.1_Missense_Mutation_p.A784T|CACHD1_uc010opa.1_Missense_Mutation_p.A273T	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	1080	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2						TGACATGGGAGCAATAGGTAT	0.438												
DNAJC6	9829	broad.mit.edu	37	1	65877006	65877006	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:65877006C>T	uc001dcd.1	+	18	2701	c.2537C>T	c.(2536-2538)GCT>GTT	p.A846V	DNAJC6_uc010opc.1_Missense_Mutation_p.A833V|DNAJC6_uc001dce.1_Missense_Mutation_p.A903V	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	846					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						GTACTATGGGCTGGGGAGACC	0.483												
C1orf173	127254	broad.mit.edu	37	1	75097559	75097559	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:75097559C>T	uc001dgg.2	-	7	876	c.657G>A	c.(655-657)ATG>ATA	p.M219I	C1orf173_uc001dgi.3_Missense_Mutation_p.M13I	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	219										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						GATATGAATTCATTCTCTGTG	0.393												
USP33	23032	broad.mit.edu	37	1	78177504	78177504	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:78177504A>G	uc001dht.2	-	22	2774	c.2427T>C	c.(2425-2427)ATT>ATC	p.I809I	USP33_uc001dhs.2_Silent_p.I530I|USP33_uc001dhu.2_Silent_p.I778I|USP33_uc001dhv.2_Silent_p.I614I|USP33_uc001dhw.2_Silent_p.I801I	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	809	DUSP 1.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						AAGTATGACAAATGTACAGAT	0.323												
IFI44L	10964	broad.mit.edu	37	1	79094073	79094073	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:79094073T>C	uc010oro.1	+	2	652	c.473T>C	c.(472-474)GTT>GCT	p.V158A	IFI44L_uc010orp.1_Intron|IFI44L_uc010orq.1_Intron	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	158						cytoplasm					0						GTTTTTCGAGTTGAAGGTTTG	0.313												
TTLL7	79739	broad.mit.edu	37	1	84386822	84386822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:84386822G>A	uc001djc.2	-	12	1708	c.1312C>T	c.(1312-1314)CGA>TGA	p.R438*	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	438					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ATCTGCTTTCGTACTTGAGCG	0.313												
SSX2IP	117178	broad.mit.edu	37	1	85121543	85121543	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:85121543G>A	uc001dkh.2	-	12	1636	c.1361C>T	c.(1360-1362)ACA>ATA	p.T454I	SSX2IP_uc001dkf.2_Missense_Mutation_p.T426I|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Missense_Mutation_p.T427I|SSX2IP_uc001dki.2_Missense_Mutation_p.T454I|SSX2IP_uc010osa.1_Missense_Mutation_p.T427I|SSX2IP_uc001dkj.2_Missense_Mutation_p.T454I|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.T450I	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting	454	Potential.				cell adhesion	nucleus|protein complex				ovary(2)	2				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGCGGCTTCTGTAAAGCTTCG	0.423												
PKN2	5586	broad.mit.edu	37	1	89250378	89250378	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:89250378C>T	uc001dmn.2	+	7	1384	c.1042C>T	c.(1042-1044)CGG>TGG	p.R348W	PKN2_uc001dmm.1_Missense_Mutation_p.R348W|PKN2_uc010osp.1_Missense_Mutation_p.R348W|PKN2_uc010osq.1_Missense_Mutation_p.R191W|PKN2_uc009wcv.2_Missense_Mutation_p.R348W|PKN2_uc010osr.1_Missense_Mutation_p.R13W	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	348	C2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TGTCCCTGGACGGTCAAAAGC	0.428												
GBP5	115362	broad.mit.edu	37	1	89733145	89733145	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:89733145T>C	uc001dnc.2	-	5	920	c.383A>G	c.(382-384)TAC>TGC	p.Y128C	GBP5_uc001dnd.2_Missense_Mutation_p.Y128C|GBP5_uc001dne.1_Missense_Mutation_p.Y128C	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	128						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		CACAGTATTGTACACAAAGGT	0.433												
ARHGAP29	9411	broad.mit.edu	37	1	94650428	94650428	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:94650428C>A	uc001dqj.3	-	18	2478	c.2109G>T	c.(2107-2109)CAG>CAT	p.Q703H	ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Missense_Mutation_p.Q269H	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	703	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TATAATGTACCTGTAGACACA	0.328												
LRRC39	127495	broad.mit.edu	37	1	100614640	100614640	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:100614640G>A	uc001dsw.1	-	10	1165	c.966C>T	c.(964-966)AAC>AAT	p.N322N	CCDC76_uc001dsv.2_3'UTR|CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_3'UTR|LRRC39_uc001dsx.1_Silent_p.N322N|LRRC39_uc001dsy.1_3'UTR|LRRC39_uc001dsz.1_Silent_p.N322N	NM_144620	NP_653221	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	322										ovary(2)|skin(1)	3		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TAGTTGAACCGTTGACTTGGT	0.303												
COL11A1	1301	broad.mit.edu	37	1	103387077	103387077	+	Silent	SNP	A	A	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:103387077A>C	uc001dul.2	-	48	4023	c.3705T>G	c.(3703-3705)GCT>GCG	p.A1235A	COL11A1_uc001duk.2_Silent_p.A431A|COL11A1_uc001dum.2_Silent_p.A1247A|COL11A1_uc001dun.2_Silent_p.A1196A|COL11A1_uc009weh.2_Silent_p.A1119A	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1235	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCTTACATCAGCTCCATTGG	0.358												
AMY2B	280	broad.mit.edu	37	1	104120455	104120455	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:104120455A>G	uc001duq.2	+	11	1950	c.1334A>G	c.(1333-1335)AAC>AGC	p.N445S	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.N445S|AMY2B_uc001dus.1_RNA	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	445					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ATTGTTTTCAACAATGATGAC	0.353												
PRMT6	55170	broad.mit.edu	37	1	107599615	107599615	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:107599615C>T	uc010ous.1	+	1	349	c.278C>T	c.(277-279)ACC>ATC	p.T93I		NM_018137	NP_060607	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	93					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity				0		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GGCGCGGGCACCGGCATTCTG	0.687												
NTNG1	22854	broad.mit.edu	37	1	107867286	107867286	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:107867286A>G	uc001dvh.3	+	3	1347	c.629A>G	c.(628-630)TAC>TGC	p.Y210C	NTNG1_uc001dvf.3_Missense_Mutation_p.Y210C|NTNG1_uc010out.1_Missense_Mutation_p.Y210C|NTNG1_uc001dvc.3_Missense_Mutation_p.Y210C|NTNG1_uc001dvd.1_Missense_Mutation_p.Y210C	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	210	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACAGAAGAGTACTCAACAGGG	0.408												
CELSR2	1952	broad.mit.edu	37	1	109793004	109793004	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:109793004T>C	uc001dxa.3	+	1	364	c.303T>C	c.(301-303)ATT>ATC	p.I101I		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	101	Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGGCCCATATTCCCCTACCAC	0.647												
CELSR2	1952	broad.mit.edu	37	1	109816666	109816666	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:109816666C>T	uc001dxa.3	+	34	8828	c.8767C>T	c.(8767-8769)CAT>TAT	p.H2923Y		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2923	Cytoplasmic (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TAACTTCCTGCATTAACCCTG	0.547												
SORT1	6272	broad.mit.edu	37	1	109859557	109859557	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:109859557T>C	uc001dxm.1	-	17	2214	c.2165A>G	c.(2164-2166)AAA>AGA	p.K722R	SORT1_uc010ovi.1_Missense_Mutation_p.K585R	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	722	Interactions with LRPAP1 and NGFB.|Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ACCCTGGCATTTGTCCCCTGG	0.408												
AMPD2	271	broad.mit.edu	37	1	110168804	110168804	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:110168804C>T	uc009wfh.1	+	5	1080	c.538C>T	c.(538-540)CGG>TGG	p.R180W	AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.R99W|AMPD2_uc001dyc.1_Missense_Mutation_p.R180W|AMPD2_uc010ovr.1_Missense_Mutation_p.R105W|AMPD2_uc010ovs.1_Missense_Mutation_p.R62W|AMPD2_uc001dyd.1_Missense_Mutation_p.R61W	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	180					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CATCCTGCTTCGGGCCAAGCA	0.572												
AMPD2	271	broad.mit.edu	37	1	110171361	110171361	+	Missense_Mutation	SNP	C	C	T	rs116156816	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:110171361C>T	uc009wfh.1	+	13	2208	c.1666C>T	c.(1666-1668)CGC>TGC	p.R556C	AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.R475C|AMPD2_uc001dyc.1_Missense_Mutation_p.R556C|AMPD2_uc010ovr.1_Missense_Mutation_p.R481C|AMPD2_uc001dyd.1_Missense_Mutation_p.R437C|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	556					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CAAGCTGGCGCGCTGGGCCGT	0.642												
KCNC4	3749	broad.mit.edu	37	1	110754584	110754584	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:110754584G>A	uc001dzh.2	+	1	520	c.463G>A	c.(463-465)GAG>AAG	p.E155K	KCNC4_uc001dzf.2_Missense_Mutation_p.E155K|KCNC4_uc009wfr.2_Missense_Mutation_p.E155K|KCNC4_uc001dzg.2_Missense_Mutation_p.E155K|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	155	Cytoplasmic (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCGCGACGCCGAGGAGGCGCT	0.716												
KCNA2	3737	broad.mit.edu	37	1	111146992	111146992	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:111146992C>T	uc001dzu.2	-	2	909	c.413G>A	c.(412-414)CGT>CAT	p.R138H	KCNA2_uc009wfv.1_Missense_Mutation_p.R138H|KCNA2_uc009wfw.2_Missense_Mutation_p.R138H	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	138						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		AGGCAGAGGACGCTCTTCCTC	0.458												
KCNA3	3738	broad.mit.edu	37	1	111216110	111216110	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:111216110G>C	uc001dzv.1	-	1	1546	c.1322C>G	c.(1321-1323)ACC>AGC	p.T441S		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	441						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTTGTCATGGTTACCACTGC	0.572												
KCNA3	3738	broad.mit.edu	37	1	111217007	111217007	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:111217007G>A	uc001dzv.1	-	1	649	c.425C>T	c.(424-426)CCG>CTG	p.P142L		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	142						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGCGGAGCGGGTCGAAGTA	0.647												
CD53	963	broad.mit.edu	37	1	111437656	111437656	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:111437656G>A	uc001dzw.2	+	6	573	c.402G>A	c.(400-402)GCG>GCA	p.A134A	CD53_uc001dzx.2_Silent_p.A134A|CD53_uc010owa.1_Intron|CD53_uc001dzy.2_Silent_p.A134A	NM_001040033	NP_001035122	P19397	CD53_HUMAN	CD53 antigen	134	Extracellular (Potential).				signal transduction	integral to membrane|plasma membrane					0		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CCAAGGCAGCGTGGGACTCCA	0.507												
CEPT1	10390	broad.mit.edu	37	1	111690562	111690562	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:111690562G>A	uc001eah.1	+	2	434	c.226G>A	c.(226-228)GTT>ATT	p.V76I	CEPT1_uc001eag.2_Missense_Mutation_p.V76I|CEPT1_uc001eai.1_Missense_Mutation_p.V76I|CEPT1_uc001eaj.1_Missense_Mutation_p.V76I	NM_001007794	NP_001007795	Q9Y6K0	CEPT1_HUMAN	choline/ethanolaminephosphotransferase	76						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding				0		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	GGAATGGCTCGTTAGAAGAGT	0.443												
KCND3	3752	broad.mit.edu	37	1	112525093	112525093	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:112525093G>A	uc001ebu.1	-	2	736	c.256C>T	c.(256-258)CGG>TGG	p.R86W	KCND3_uc001ebv.1_Missense_Mutation_p.R86W	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	86	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TCGGGGTCCCGGTCGAAGAAG	0.627												
WNT2B	7482	broad.mit.edu	37	1	113051996	113051996	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:113051996C>T	uc001ecb.2	+	1	627	c.112C>T	c.(112-114)CGC>TGC	p.R38C	WNT2B_uc001eca.2_Intron|WNT2B_uc009wgg.2_Intron	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	38					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCTTCGGCCCGCCTAGGTCT	0.736												
WNT2B	7482	broad.mit.edu	37	1	113059031	113059031	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:113059031G>T	uc001ecb.2	+	3	1188	c.673G>T	c.(673-675)GGT>TGT	p.G225C	WNT2B_uc001eca.2_Missense_Mutation_p.G206C|WNT2B_uc009wgg.2_Missense_Mutation_p.G133C	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	225					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAACCGCTGTGGTCGCACGGT	0.498												
AP4B1	10717	broad.mit.edu	37	1	114442813	114442813	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:114442813C>T	uc001eeb.2	-	5	970	c.827G>A	c.(826-828)CGG>CAG	p.R276Q	uc001edv.1_RNA|AP4B1_uc001eec.2_Missense_Mutation_p.R108Q|AP4B1_uc001eed.2_Missense_Mutation_p.R276Q|AP4B1_uc010owp.1_Missense_Mutation_p.R177Q|AP4B1_uc001eea.1_Missense_Mutation_p.R70Q|AP4B1_uc010owq.1_Missense_Mutation_p.R183Q	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1	276					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			ovary(3)|central_nervous_system(1)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCCTTGACCCGCACAAGGAC	0.483												
NGF	4803	broad.mit.edu	37	1	115829340	115829340	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:115829340A>G	uc001efu.1	-	3	246	c.77T>C	c.(76-78)GTC>GCC	p.V26A		NM_002506	NP_002497	P01138	NGF_HUMAN	nerve growth factor, beta polypeptide precursor	26					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			upper_aerodigestive_tract(2)	2	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCCTGCAGGGACATTGCTCTC	0.547												
NHLH2	4808	broad.mit.edu	37	1	116380755	116380755	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:116380755G>A	uc009wgz.2	-	2	744	c.239C>T	c.(238-240)TCG>TTG	p.S80L	NHLH2_uc001efy.2_Missense_Mutation_p.S80L	NM_001111061	NP_001104531	Q02577	HEN2_HUMAN	nescient helix loop helix 2	80	Basic motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GGCGTGGGCCGAGCGGTACTT	0.726												
WDR3	10885	broad.mit.edu	37	1	118481113	118481113	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:118481113A>G	uc010oxe.1	+	5	577	c.511A>G	c.(511-513)ACC>GCC	p.T171A	WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_Translation_Start_Site	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	171	WD 4.					nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TGGGAAAGATACCATGGTGAA	0.413												
SPAG17	200162	broad.mit.edu	37	1	118693898	118693898	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:118693898T>C	uc001ehk.2	-	2	250	c.182A>G	c.(181-183)CAG>CGG	p.Q61R		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	61						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GAGTTTACGCTGAGGGACCTG	0.468												
WARS2	10352	broad.mit.edu	37	1	119575743	119575743	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:119575743G>A	uc001ehn.2	-	6	902	c.874C>T	c.(874-876)CGC>TGC	p.R292C	WARS2_uc010oxf.1_Missense_Mutation_p.R198C|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.R235C|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	292					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GCGCTGCGGCGCACCACTTCC	0.602												
HSD3B1	3283	broad.mit.edu	37	1	120057096	120057096	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:120057096G>A	uc001ehv.1	+	4	1095	c.950G>A	c.(949-951)CGC>CAC	p.R317H	HSD3B1_uc001ehw.2_Missense_Mutation_p.R319H	NM_000862	NP_000853	P14060	3BHS1_HUMAN	3 beta-hydroxysteroid dehydrogenase 1	317					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CCCTTCAACCGCCACATAGTC	0.478												
PDE4DIP	9659	broad.mit.edu	37	1	144857026	144857026	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:144857026A>G	uc001elw.3	-	40	6750	c.6459T>C	c.(6457-6459)ACT>ACC	p.T2153T	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.T2047T|PDE4DIP_uc001elv.3_Silent_p.T1160T	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	2153					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTACTGGAGAAGTATCCAAAC	0.433			T	PDGFRB	MPD							
HFE2	148738	broad.mit.edu	37	1	145415499	145415499	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:145415499G>A	uc001eni.2	+	3	643	c.318G>A	c.(316-318)GCG>GCA	p.A106A	NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enk.2_5'UTR|HFE2_uc001enl.2_Intron	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN	hemojuvelin isoform a precursor	106					axon guidance	anchored to membrane				ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCATTCGGCGGTACATGGCA	0.617												
PRKAB2	5565	broad.mit.edu	37	1	146638125	146638125	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:146638125C>T	uc001epe.2	-	5	635	c.490G>A	c.(490-492)GAT>AAT	p.D164N	PRKAB2_uc010ozm.1_Missense_Mutation_p.D82N|PRKAB2_uc010ozn.1_Intron|PRKAB2_uc009wjf.1_Missense_Mutation_p.D164N	NM_005399	NP_005390	O43741	AAKB2_HUMAN	AMP-activated protein kinase beta 2	164					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				lung(2)|skin(1)	3	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	TTTAAAGCATCGAACACCTCA	0.348												
HIST2H2BE	8349	broad.mit.edu	37	1	149857996	149857996	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:149857996G>T	uc001etc.2	-	1	237	c.195C>A	c.(193-195)TCC>TCA	p.S65S	HIST2H2AC_uc001etd.2_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	65					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGTTGACGAAGGAGTTCATGA	0.607												
MTMR11	10903	broad.mit.edu	37	1	149905314	149905314	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:149905314C>T	uc001etl.3	-	10	1221	c.970G>A	c.(970-972)GCC>ACC	p.A324T	MTMR11_uc001etm.1_Missense_Mutation_p.A252T|MTMR11_uc010pbm.1_Missense_Mutation_p.A296T|MTMR11_uc010pbn.1_Missense_Mutation_p.A166T	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	324	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGGCAGAGGGCCCTCAGCCTC	0.557												
CA14	23632	broad.mit.edu	37	1	150235500	150235500	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:150235500C>T	uc001etx.2	+	7	931	c.622C>T	c.(622-624)CAG>TAG	p.Q208*		NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV precursor	208	Extracellular (Potential).					integral to membrane	carbonate dehydratase activity|metal ion binding			ovary(1)	1	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACAGCTGGGGCAGTACTTCCG	0.517												
C1orf54	79630	broad.mit.edu	37	1	150252086	150252086	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:150252086G>A	uc001eud.2	+	5	371	c.333G>A	c.(331-333)TTG>TTA	p.L111L	C1orf54_uc001euc.2_Silent_p.L112L|C1orf54_uc001eue.2_Intron|C1orf54_uc001euf.2_Silent_p.L111L|C1orf54_uc001eug.2_Intron|C1orf51_uc001euh.2_5'Flank|C1orf51_uc001eui.2_5'Flank	NM_024579	NP_078855	Q8WWF1	CA054_HUMAN	hypothetical protein LOC79630 precursor	111						extracellular region					0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTCCAGTTTGCGAAGTCCTA	0.527												
RPRD2	23248	broad.mit.edu	37	1	150444477	150444477	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:150444477G>A	uc009wlr.2	+	11	3254	c.3053G>A	c.(3052-3054)CGT>CAT	p.R1018H	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.R992H	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	1018							protein binding			ovary(1)	1						AACGCCTCACGTAAGCCCTCA	0.537												
FAM63A	55793	broad.mit.edu	37	1	150970118	150970118	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:150970118C>T	uc001ewf.2	-	10	2995	c.1311G>A	c.(1309-1311)ACG>ACA	p.T437T	FAM63A_uc001ewc.2_Silent_p.T295T|FAM63A_uc010pcm.1_Silent_p.T342T|FAM63A_uc001ewd.2_Silent_p.T295T|FAM63A_uc001ewe.2_Silent_p.T271T|FAM63A_uc010pcn.1_Silent_p.T485T|FAM63A_uc001ewg.2_Silent_p.T437T	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	hypothetical protein LOC55793 isoform 1	437							protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACAGGACCCGCGTCCGCATCC	0.642												
FAM63A	55793	broad.mit.edu	37	1	150973067	150973067	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:150973067G>A	uc001ewf.2	-	6	2285	c.601C>T	c.(601-603)CTG>TTG	p.L201L	FAM63A_uc001ewc.2_Silent_p.L59L|FAM63A_uc010pcm.1_Silent_p.L106L|FAM63A_uc001ewd.2_Silent_p.L59L|FAM63A_uc001ewe.2_Silent_p.L35L|FAM63A_uc010pcn.1_Silent_p.L249L|FAM63A_uc001ewg.2_Silent_p.L201L	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	hypothetical protein LOC55793 isoform 1	201							protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTTTAGGCAGCACTGTCATT	0.473												
C1orf56	54964	broad.mit.edu	37	1	151020505	151020505	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:151020505G>T	uc001ewn.2	+	1	247	c.182G>T	c.(181-183)AGG>ATG	p.R61M		NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	hypothetical protein LOC54964 precursor	61						extracellular region					0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGAAGACAAGGATAATCCTA	0.647												
ZNF687	57592	broad.mit.edu	37	1	151261640	151261640	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:151261640C>T	uc001exq.2	+	4	2462	c.2364C>T	c.(2362-2364)TGC>TGT	p.C788C	ZNF687_uc009wmo.2_Silent_p.C788C|ZNF687_uc009wmp.2_Silent_p.C788C	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	788					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGTCGCACTGCGAGGTTTTCC	0.597												
POGZ	23126	broad.mit.edu	37	1	151377849	151377849	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:151377849C>T	uc001eyd.1	-	19	3968	c.3662G>A	c.(3661-3663)CGC>CAC	p.R1221H	POGZ_uc001eye.1_Missense_Mutation_p.R1168H|POGZ_uc010pdb.1_Missense_Mutation_p.R1212H|POGZ_uc001eyf.1_Missense_Mutation_p.R1177H|POGZ_uc010pdc.1_Missense_Mutation_p.R1159H|POGZ_uc009wmv.1_Missense_Mutation_p.R1126H|POGZ_uc010pdd.1_Missense_Mutation_p.R712H	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1221	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTTTGCTGCGCTGGCAAGC	0.527												
RPTN	126638	broad.mit.edu	37	1	152127424	152127424	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152127424G>A	uc001ezs.1	-	3	2216	c.2151C>T	c.(2149-2151)CAC>CAT	p.H717H		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	717	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						TCTCATGGCTGTGTCTATCCC	0.562												
HRNR	388697	broad.mit.edu	37	1	152187054	152187054	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152187054A>T	uc001ezt.1	-	3	7127	c.7051T>A	c.(7051-7053)TCC>ACC	p.S2351T		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2351	25.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAACCAGAGGACTGCCATGAG	0.567												
FLG	2312	broad.mit.edu	37	1	152278662	152278662	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152278662A>G	uc001ezu.1	-	3	8736	c.8700T>C	c.(8698-8700)CAT>CAC	p.H2900H		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2900	Ser-rich.|Filaggrin 17.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCTTCTGAATGTCCCTCAC	0.567									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152278749	152278749	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152278749T>C	uc001ezu.1	-	3	8649	c.8613A>G	c.(8611-8613)TCA>TCG	p.S2871S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2871	Ser-rich.|Filaggrin 17.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGACTGCCTGTGAGTGTCTAG	0.562									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152278757	152278757	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152278757T>C	uc001ezu.1	-	3	8641	c.8605A>G	c.(8605-8607)AGA>GGA	p.R2869G		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2869	Ser-rich.|Filaggrin 17.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGAGTGTCTAGAGATGTCG	0.557									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152278762	152278762	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152278762A>C	uc001ezu.1	-	3	8636	c.8600T>G	c.(8599-8601)ATC>AGC	p.I2867S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2867	Ser-rich.|Filaggrin 17.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCTAGAGATGTCGGCATG	0.562									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152279050	152279050	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152279050T>C	uc001ezu.1	-	3	8348	c.8312A>G	c.(8311-8313)CAA>CGA	p.Q2771R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2771	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCTGTCTTGTGCCTGCTC	0.592									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152280504	152280504	+	Missense_Mutation	SNP	G	G	T	rs141571186		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152280504G>T	uc001ezu.1	-	3	6894	c.6858C>A	c.(6856-6858)CAC>CAA	p.H2286Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2286	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGTCTTCGTGATGGGACC	0.557									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152280635	152280635	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152280635C>A	uc001ezu.1	-	3	6763	c.6727G>T	c.(6727-6729)GTT>TTT	p.V2243F		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2243	Ser-rich.|Filaggrin 13.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGGCTAACACTGGATCCC	0.572									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152280840	152280840	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152280840C>A	uc001ezu.1	-	3	6558	c.6522G>T	c.(6520-6522)CAG>CAT	p.Q2174H		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2174	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGACCTTCCCTGGGATGTGG	0.557									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152285753	152285753	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152285753T>G	uc001ezu.1	-	3	1645	c.1609A>C	c.(1609-1611)AAT>CAT	p.N537H	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	537	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGACCTATTTACCGATTGC	0.582									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152286029	152286029	+	Missense_Mutation	SNP	G	G	C	rs141885805	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152286029G>C	uc001ezu.1	-	3	1369	c.1333C>G	c.(1333-1335)CTG>GTG	p.L445V	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	445	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGTCTCAGCCCAGCCTTT	0.587									Ichthyosis			
CRNN	49860	broad.mit.edu	37	1	152382676	152382676	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152382676G>A	uc001ezx.2	-	3	956	c.882C>T	c.(880-882)CAC>CAT	p.H294H		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	294	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCTGGGTGTGTGTCCCTG	0.607												
INTS3	65123	broad.mit.edu	37	1	153723713	153723713	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:153723713C>T	uc009wom.2	+	8	948	c.727C>T	c.(727-729)CGG>TGG	p.R243W	INTS3_uc001fct.2_Missense_Mutation_p.R243W|INTS3_uc001fcu.2_Translation_Start_Site|INTS3_uc001fcv.2_Missense_Mutation_p.R37W|INTS3_uc010peb.1_Missense_Mutation_p.R37W|INTS3_uc001fcw.2_Translation_Start_Site	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	244					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTCGGGAACGGGTGAGGGA	0.517												
DENND4B	9909	broad.mit.edu	37	1	153907345	153907345	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:153907345G>A	uc001fdd.1	-	18	3065	c.2664C>T	c.(2662-2664)CGC>CGT	p.R888R	uc001fdc.1_RNA	NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	888	Gln-rich.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCAAGGGCTGGCGGAACTGAG	0.453												
DENND4B	9909	broad.mit.edu	37	1	153913024	153913024	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:153913024G>A	uc001fdd.1	-	10	1786	c.1385C>T	c.(1384-1386)GCA>GTA	p.A462V		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	462	DENN.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCACATCTGCCAGCACCAG	0.557												
AQP10	89872	broad.mit.edu	37	1	154296793	154296793	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:154296793C>T	uc001feu.2	+	6	783	c.743C>T	c.(742-744)GCC>GTC	p.A248V	AQP10_uc001fev.2_3'UTR|ATP8B2_uc001few.2_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	aquaporin 10	248	Extracellular (Potential).				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTGTGGTGGCCCCTCTGGTG	0.612											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SHC1	6464	broad.mit.edu	37	1	154942648	154942648	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:154942648C>T	uc001ffv.2	-	1	576	c.355G>A	c.(355-357)GGG>AGG	p.G119R	SHC1_uc001ffz.1_5'Flank|SHC1_uc001ffw.2_Missense_Mutation_p.G119R|SHC1_uc001ffx.2_Missense_Mutation_p.G9R|SHC1_uc001ffy.2_Missense_Mutation_p.G9R	NM_183001	NP_892113	P29353	SHC1_HUMAN	SHC-transforming protein 1 isoform 1	119					activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(1)|skin(1)	2	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTCCTGCGCCCGCCGCCTCCA	0.667												
FLAD1	80308	broad.mit.edu	37	1	154960618	154960618	+	Missense_Mutation	SNP	G	G	A	rs61741145	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:154960618G>A	uc001fgf.1	+	2	764	c.410G>A	c.(409-411)CGG>CAG	p.R137Q	FLAD1_uc001fgc.2_Missense_Mutation_p.R38Q|FLAD1_uc001fgd.1_Missense_Mutation_p.R137Q|FLAD1_uc001fge.1_Missense_Mutation_p.R40Q|FLAD1_uc001fgg.1_Missense_Mutation_p.R40Q|FLAD1_uc001fgh.1_5'UTR	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase isoform	137	Molybdenum cofactor biosynthesis protein- like.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			ovary(2)|skin(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTTCTGTGCCGGACACTGCGC	0.557												
DCST2	127579	broad.mit.edu	37	1	155006032	155006032	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:155006032C>T	uc001fgm.2	-	1	226	c.146G>A	c.(145-147)GGC>GAC	p.G49D	DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	49	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGGCTGTGGCCTTCCACCAG	0.627												
TRIM46	80128	broad.mit.edu	37	1	155150709	155150709	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:155150709G>A	uc001fhs.1	+	6	1224	c.1141G>A	c.(1141-1143)GCC>ACC	p.A381T	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.A381T|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.A255T|TRIM46_uc001fhu.1_Missense_Mutation_p.A358T|TRIM46_uc009wpg.1_Missense_Mutation_p.A368T|TRIM46_uc001fhv.3_Missense_Mutation_p.A368T|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	381	Potential.|COS.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTTTGTGCAAGCCGCCAAGCA	0.572												
GBA	2629	broad.mit.edu	37	1	155209421	155209421	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:155209421T>C	uc001fjh.2	-	4	590	c.440A>G	c.(439-441)TAC>TGC	p.Y147C	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Intron|GBA_uc010pfx.1_Intron|GBA_uc001fji.2_Missense_Mutation_p.Y147C|GBA_uc001fjj.2_Missense_Mutation_p.Y147C|GBA_uc001fjk.2_Missense_Mutation_p.Y147C|GBA_uc001fjl.2_Missense_Mutation_p.Y147C|GBA_uc010pfy.1_Missense_Mutation_p.Y60C|GBA_uc009wqk.1_Missense_Mutation_p.Y60C	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	147					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			ovary(1)|skin(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TTCAGAGAAGTACGATTTAAG	0.378									Gaucher_disease_type_I			
FAM189B	10712	broad.mit.edu	37	1	155221590	155221590	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:155221590G>A	uc001fjm.2	-	6	1334	c.728C>T	c.(727-729)CCG>CTG	p.P243L	RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_Missense_Mutation_p.P9L|FAM189B_uc001fjn.2_Missense_Mutation_p.P147L|FAM189B_uc001fjo.2_Missense_Mutation_p.P225L|FAM189B_uc001fjp.2_Intron	NM_006589	NP_006580	P81408	F189B_HUMAN	hypothetical protein LOC10712 isoform a	243	Poly-Pro.					integral to membrane	WW domain binding			ovary(1)|breast(1)	2						GGGCACAGGCGGGACAAATTC	0.632												
CLK2	1196	broad.mit.edu	37	1	155233764	155233764	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:155233764G>A	uc001fjy.2	-	12	1584	c.1294C>T	c.(1294-1296)CGT>TGT	p.R432C	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Missense_Mutation_p.R431C|CLK2_uc001fjx.2_Missense_Mutation_p.R204C|CLK2_uc009wqm.2_Missense_Mutation_p.R432C	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	432	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGTTCTCACGAACATAGCGC	0.537								Other_conserved_DNA_damage_response_genes				
CLK2	1196	broad.mit.edu	37	1	155234456	155234456	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:155234456C>T	uc001fjy.2	-	9	1333	c.1043G>A	c.(1042-1044)CGA>CAA	p.R348Q	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Missense_Mutation_p.R347Q|CLK2_uc001fjx.2_Missense_Mutation_p.R120Q|CLK2_uc009wqm.2_Missense_Mutation_p.R348Q	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	348	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTCTGGTGCTCGGTAATGGCG	0.552								Other_conserved_DNA_damage_response_genes				
RUSC1	23623	broad.mit.edu	37	1	155294946	155294946	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:155294946G>A	uc001fkj.2	+	4	1739	c.1510G>A	c.(1510-1512)GCC>ACC	p.A504T	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fki.2_5'Flank|RUSC1_uc001fkk.2_Missense_Mutation_p.A504T|RUSC1_uc009wqn.1_Intron|RUSC1_uc009wqo.1_Missense_Mutation_p.A35T|RUSC1_uc001fkl.2_Missense_Mutation_p.A94T|RUSC1_uc001fkp.2_Missense_Mutation_p.A35T|RUSC1_uc001fkq.2_Missense_Mutation_p.A35T|RUSC1_uc010pgb.1_Missense_Mutation_p.A35T|RUSC1_uc009wqp.1_5'UTR|RUSC1_uc001fkn.2_5'UTR|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.A35T|RUSC1_uc001fks.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	504						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GCATTTCGGGGCCGCCCGGAA	0.622											OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ASH1L	55870	broad.mit.edu	37	1	155448745	155448745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:155448745G>A	uc009wqq.2	-	3	4396	c.3916C>T	c.(3916-3918)CGA>TGA	p.R1306*	ASH1L_uc001fkt.2_Nonsense_Mutation_p.R1306*|ASH1L_uc009wqr.1_Nonsense_Mutation_p.R1306*	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1306					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGATGACTTCGATGAGTGATC	0.403												
ASH1L	55870	broad.mit.edu	37	1	155491157	155491157	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:155491157G>A	uc009wqq.2	-	2	634	c.154C>T	c.(154-156)CGG>TGG	p.R52W	ASH1L_uc001fkt.2_Missense_Mutation_p.R52W|ASH1L_uc009wqr.1_Missense_Mutation_p.R52W	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	52					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTCGATTCCGTTTGCGAAGG	0.413												
RXFP4	339403	broad.mit.edu	37	1	155911941	155911941	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:155911941G>A	uc010pgs.1	+	1	462	c.441G>A	c.(439-441)GCG>GCA	p.A147A		NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN	relaxin 3 receptor 2	147	Cytoplasmic (Potential).					integral to membrane|plasma membrane	angiotensin type II receptor activity				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCATGGCTGCGGGGCCAGGCA	0.647												
UBQLN4	56893	broad.mit.edu	37	1	156018332	156018332	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156018332G>A	uc001fna.2	-	5	884	c.860C>T	c.(859-861)ACG>ATG	p.T287M	UBQLN4_uc010pgx.1_Missense_Mutation_p.T267M	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	ataxin-1 ubiquitin-like interacting protein	287						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			pancreas(1)|skin(1)	2	Hepatocellular(266;0.133)|all_neural(408;0.195)					CTGGATGTCCGTGTACATGCG	0.602												
RAB25	57111	broad.mit.edu	37	1	156035832	156035832	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156035832C>T	uc001fnc.2	+	2	400	c.174C>T	c.(172-174)ACC>ACT	p.T58T		NM_020387	NP_065120	P57735	RAB25_HUMAN	RAB25	58					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGTTGGGCACCGCTGCTGTCA	0.642												
SEMA4A	64218	broad.mit.edu	37	1	156124510	156124510	+	Splice_Site	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156124510T>C	uc001fnl.2	+	2	243	c.139_splice	c.e2+2	p.G47_splice	SEMA4A_uc009wrq.2_Splice_Site_p.G47_splice|SEMA4A_uc001fnm.2_Splice_Site_p.G47_splice|SEMA4A_uc001fnn.2_Intron|SEMA4A_uc001fno.2_Splice_Site_p.G47_splice	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor						axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					ACTATGCAGGTAAGTGTCCGA	0.597												
SEMA4A	64218	broad.mit.edu	37	1	156130338	156130338	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156130338C>T	uc001fnl.2	+	7	777	c.673C>T	c.(673-675)CGC>TGC	p.R225C	SEMA4A_uc009wrq.2_Missense_Mutation_p.R225C|SEMA4A_uc001fnm.2_Missense_Mutation_p.R225C|SEMA4A_uc001fnn.2_Missense_Mutation_p.R93C|SEMA4A_uc001fno.2_Missense_Mutation_p.R225C	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	225	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					CAACTTCCTCCGCTGGCTGCA	0.473												
PAQR6	79957	broad.mit.edu	37	1	156216522	156216522	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156216522T>C	uc001fnu.1	-	2	71	c.1A>G	c.(1-3)ATG>GTG	p.M1V	PAQR6_uc010phf.1_Intron|PAQR6_uc001fny.1_Intron|PAQR6_uc001fnv.1_Intron|PAQR6_uc010phg.1_Missense_Mutation_p.M1V|PAQR6_uc001fnx.1_5'UTR|PAQR6_uc001fnw.1_5'UTR|PAQR6_uc001fnz.1_5'UTR|PAQR6_uc010phh.1_Missense_Mutation_p.M1V|PAQR6_uc001foa.1_5'UTR|PAQR6_uc001fob.1_RNA	NM_198406	NP_940798	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	1	Cytoplasmic (Potential).					integral to membrane	receptor activity				0	Hepatocellular(266;0.158)					AGACTGAGCATGGTGGCCTGG	0.612												
GPATCH4	54865	broad.mit.edu	37	1	156568272	156568272	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156568272G>A	uc001fpm.2	-	3	148	c.109C>T	c.(109-111)CGG>TGG	p.R37W	GPATCH4_uc001fpl.2_Missense_Mutation_p.R32W	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4 isoform 1	32	G-patch.					intracellular	nucleic acid binding			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCTCCTTCCGGCCGAGGCCT	0.562												
PRCC	5546	broad.mit.edu	37	1	156737935	156737935	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156737935T>C	uc001fqa.2	+	1	662	c.372T>C	c.(370-372)CCT>CCC	p.P124P	PRCC_uc001fqb.2_Silent_p.P124P|HDGF_uc009wsf.2_5'Flank	NM_005973	NP_005964	Q92733	PRCC_HUMAN	papillary renal cell carcinoma	124					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	kidney(25)|central_nervous_system(2)	27	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATCTGCCCCCTCCAATTGGCG	0.672			T	TFE3	papillary renal 							
PRCC	5546	broad.mit.edu	37	1	156737938	156737938	+	Silent	SNP	A	A	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156737938A>C	uc001fqa.2	+	1	665	c.375A>C	c.(373-375)CCA>CCC	p.P125P	PRCC_uc001fqb.2_Silent_p.P125P|HDGF_uc009wsf.2_5'Flank	NM_005973	NP_005964	Q92733	PRCC_HUMAN	papillary renal cell carcinoma	125					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	kidney(25)|central_nervous_system(2)	27	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCCCCCTCCAATTGGCGGTG	0.662			T	TFE3	papillary renal 							
INSRR	3645	broad.mit.edu	37	1	156811288	156811288	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156811288G>A	uc010pht.1	-	21	3814	c.3560C>T	c.(3559-3561)ACC>ATC	p.T1187I	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	1187	Cytoplasmic (Potential).|Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTCTGCCAGGGTCACAATCTC	0.612												
ETV3L	440695	broad.mit.edu	37	1	157068643	157068643	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:157068643C>A	uc001fqq.1	-	3	626	c.341G>T	c.(340-342)AGG>ATG	p.R114M		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	114	ETS.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GTATGTGAACCTTTTGCCTTT	0.493												
FCRL2	79368	broad.mit.edu	37	1	157738437	157738437	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:157738437G>A	uc001fre.2	-	5	709	c.650C>T	c.(649-651)ACT>ATT	p.T217I	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.T217I|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	217	Ig-like C2-type 3.|Extracellular (Potential).				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTGTCCTTCAGTCACCTGTCC	0.512												
OR10K1	391109	broad.mit.edu	37	1	158435493	158435493	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:158435493A>G	uc010pij.1	+	1	142	c.142A>G	c.(142-144)ACC>GCC	p.T48A		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	48	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					CATCATTTCCACCATTGTGCT	0.493												
OR10Z1	128368	broad.mit.edu	37	1	158576274	158576274	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:158576274G>T	uc010pio.1	+	1	46	c.46G>T	c.(46-48)GGC>TGC	p.G16C		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	16	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					TGTCTTCCTGGGCTTCTCCAG	0.468												
OR6K6	128371	broad.mit.edu	37	1	158724749	158724749	+	Silent	SNP	G	G	A	rs147601748		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:158724749G>A	uc001fsw.1	+	1	144	c.144G>A	c.(142-144)GCG>GCA	p.A48A		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	48	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					TCCCGCATGCGCACAGAGGTG	0.458												
MNDA	4332	broad.mit.edu	37	1	158813179	158813179	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:158813179G>A	uc001fsz.1	+	3	576	c.376G>A	c.(376-378)GCA>ACA	p.A126T		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	126					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					GACATCGGAAGCAAGAGGGAG	0.463												
CRP	1401	broad.mit.edu	37	1	159683773	159683773	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:159683773C>T	uc001ftw.2	-	2	321	c.217G>A	c.(217-219)GCC>ACC	p.A73T	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_5'Flank	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	73	Pentaxin.			YSIFSYATKRQDNEIL -> TVFSRMPPRDKTMRFF (in Ref. 4; CAA39671).	acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CTCTTGGTGGCATACGAGAAA	0.453												
ATP1A4	480	broad.mit.edu	37	1	160151795	160151795	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:160151795C>T	uc001fve.3	+	20	3422	c.2943C>T	c.(2941-2943)GAC>GAT	p.D981D	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Silent_p.D484D|ATP1A4_uc001fvh.2_Silent_p.D117D	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	981	Extracellular (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGCATGGACGTGGCCCTGC	0.517												
USF1	7391	broad.mit.edu	37	1	161011147	161011147	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:161011147C>T	uc001fxi.2	-	7	722	c.527G>A	c.(526-528)CGC>CAC	p.R176H	F11R_uc010pjw.1_5'Flank|F11R_uc001fxf.3_5'Flank|TSTD1_uc010pjx.1_5'Flank|TSTD1_uc009wtw.2_5'Flank|TSTD1_uc001fxh.3_5'Flank|USF1_uc001fxj.2_Missense_Mutation_p.R117H	NM_007122	NP_009053	P22415	USF1_HUMAN	upstream stimulatory factor 1 isoform 1	176					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGCAATTGAGCGCTGGCTTCC	0.433												
ARHGAP30	257106	broad.mit.edu	37	1	161017527	161017527	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:161017527G>T	uc001fxl.2	-	12	3630	c.3284C>A	c.(3283-3285)CCT>CAT	p.P1095H	USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Missense_Mutation_p.P884H|ARHGAP30_uc001fxm.2_Missense_Mutation_p.P941H|ARHGAP30_uc009wtx.2_Missense_Mutation_p.P768H	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	1095					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACCTTTCCCAGGGTTAGCCTG	0.557												
PVRL4	81607	broad.mit.edu	37	1	161043525	161043525	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:161043525C>T	uc001fxo.2	-	7	1517	c.1218G>A	c.(1216-1218)ACG>ACA	p.T406T	PVRL4_uc010pjy.1_Silent_p.T85T|PVRL4_uc010pjz.1_Silent_p.T140T	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	406	Cytoplasmic (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCCTGGGGTCCGTGTGATGGG	0.617												
DUSP12	11266	broad.mit.edu	37	1	161722969	161722969	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:161722969G>A	uc001gbo.2	+	5	790	c.779G>A	c.(778-780)GGG>GAG	p.G260E	DUSP12_uc001gbp.2_Missense_Mutation_p.G130E	NM_007240	NP_009171	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	260					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)	1	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CTTACCACAGGGAGGCAAGCT	0.428												
C1orf110	339512	broad.mit.edu	37	1	162824857	162824857	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:162824857T>A	uc001gck.2	-	4	782	c.607A>T	c.(607-609)ATG>TTG	p.M203L	C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.M202L	NM_178550	NP_848645	Q86UF4	CA110_HUMAN	hypothetical protein LOC339512	203											0						GCACATGCCATTCCACTATCA	0.473												
LRRC52	440699	broad.mit.edu	37	1	165513717	165513717	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:165513717G>A	uc001gde.2	+	1	240	c.184G>A	c.(184-186)GAG>AAG	p.E62K	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	62	LRR 1.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GTTCCTGAACGAGAACAGAAT	0.473												
FAM78B	149297	broad.mit.edu	37	1	166039535	166039535	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:166039535C>A	uc001gdr.2	-	3	1319	c.729G>T	c.(727-729)CAG>CAT	p.Q243H	FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_RNA	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	hypothetical protein LOC149297	243										central_nervous_system(1)|skin(1)	2	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					ACATGAGGACCTGGGCATCAT	0.602												
GPA33	10223	broad.mit.edu	37	1	167024302	167024302	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:167024302A>G	uc001gea.1	-	6	1082	c.738T>C	c.(736-738)GTT>GTC	p.V246V		NM_005814	NP_005805	Q99795	GPA33_HUMAN	transmembrane glycoprotein A33 precursor	246	Helical; (Potential).					integral to plasma membrane	receptor activity				0						TGAGGGCTGCAACCACGCCCA	0.577												
RCSD1	92241	broad.mit.edu	37	1	167666580	167666580	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:167666580G>T	uc001gem.2	+	6	906	c.719G>T	c.(718-720)AGG>ATG	p.R240M	RCSD1_uc010pli.1_Missense_Mutation_p.R210M	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	240	RCSD.									ovary(2)|central_nervous_system(2)|skin(1)	5	all_hematologic(923;0.215)					CCTCCTCTGAGGAGGTCACCC	0.612												
RCSD1	92241	broad.mit.edu	37	1	167666619	167666619	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:167666619G>T	uc001gem.2	+	6	945	c.758G>T	c.(757-759)AGG>ATG	p.R253M	RCSD1_uc010pli.1_Missense_Mutation_p.R223M	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	253	RCSD.									ovary(2)|central_nervous_system(2)|skin(1)	5	all_hematologic(923;0.215)					GAGGAGGACAGGGCCACAGAG	0.637												
DCAF6	55827	broad.mit.edu	37	1	167971724	167971724	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:167971724G>A	uc001gew.2	+	8	1150	c.908G>A	c.(907-909)CGA>CAA	p.R303Q	DCAF6_uc001gev.2_Missense_Mutation_p.R303Q|DCAF6_uc001gex.2_Missense_Mutation_p.R303Q|DCAF6_uc010plk.1_Missense_Mutation_p.R272Q|DCAF6_uc001gey.2_Missense_Mutation_p.R156Q	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	303					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						TTTTAGTTGCGACAACCACCA	0.403												
C1orf114	57821	broad.mit.edu	37	1	169391108	169391108	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:169391108T>C	uc001gga.1	-	3	729	c.561A>G	c.(559-561)TCA>TCG	p.S187S	C1orf114_uc001gfz.1_Silent_p.S187S|C1orf114_uc009wvq.1_Silent_p.S187S|C1orf114_uc001ggb.2_Silent_p.S187S|C1orf114_uc001ggc.1_Silent_p.S187S	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	hypothetical protein LOC57821	187											0	all_hematologic(923;0.208)					TACATAATTGTGACAGTTTCC	0.353												
F5	2153	broad.mit.edu	37	1	169510286	169510286	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:169510286G>T	uc001ggg.1	-	13	4187	c.4042C>A	c.(4042-4044)CTT>ATT	p.L1348I		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1348	2-19.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GCTGGGGAAAGGTTTGTTTGA	0.527												
C1orf112	55732	broad.mit.edu	37	1	169790873	169790873	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:169790873T>G	uc001ggp.2	+	10	1066	c.756T>G	c.(754-756)TTT>TTG	p.F252L	C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggq.2_Missense_Mutation_p.F252L|C1orf112_uc009wvt.2_5'UTR|C1orf112_uc010plu.1_Missense_Mutation_p.F223L|C1orf112_uc009wvu.1_Intron|C1orf112_uc001ggr.2_Missense_Mutation_p.F117L|C1orf112_uc010plv.1_Missense_Mutation_p.F194L	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	hypothetical protein LOC55732	252											0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTCGTTTTTTTGCCAACTCCC	0.174												
GORAB	92344	broad.mit.edu	37	1	170508692	170508692	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:170508692A>G	uc001gha.2	+	2	505	c.478A>G	c.(478-480)AAA>GAA	p.K160E	GORAB_uc009wvw.2_3'UTR|GORAB_uc001ggz.3_Missense_Mutation_p.K160E|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting isoform a	160						Golgi apparatus|nucleus					0						CAAATTGGAGAAAAAGAAAGT	0.378												
METTL13	51603	broad.mit.edu	37	1	171752950	171752950	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:171752950T>C	uc001ghz.2	+	2	571	c.224T>C	c.(223-225)GTG>GCG	p.V75A	METTL13_uc001gia.2_5'UTR|METTL13_uc001gib.2_Missense_Mutation_p.V75A|METTL13_uc010pml.1_Missense_Mutation_p.V74A	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN	CGI-01 protein isoform 1	75							methyltransferase activity|protein binding			kidney(1)	1						CGGGATATAGTGAACATCGAC	0.483												
TNN	63923	broad.mit.edu	37	1	175046823	175046823	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:175046823T>A	uc001gkl.1	+	2	382	c.269T>A	c.(268-270)ATC>AAC	p.I90N	TNN_uc010pmx.1_Missense_Mutation_p.I90N	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	90					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGGCACAACATCCGCCTTCAG	0.607												
TNN	63923	broad.mit.edu	37	1	175048797	175048797	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:175048797C>T	uc001gkl.1	+	3	851	c.738C>T	c.(736-738)GGC>GGT	p.G246G	TNN_uc010pmx.1_Silent_p.G246G	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	246	EGF-like 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTGACACGGGCGAGTGCTACT	0.652												
TNN	63923	broad.mit.edu	37	1	175116131	175116131	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:175116131G>A	uc001gkl.1	+	19	3937	c.3824G>A	c.(3823-3825)CGC>CAC	p.R1275H		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	1275	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTGAAAATCCGCCCTCATGGC	0.522											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TNR	7143	broad.mit.edu	37	1	175334184	175334184	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:175334184G>A	uc001gkp.1	-	10	2630	c.2549C>T	c.(2548-2550)ACA>ATA	p.T850I	TNR_uc009wwu.1_Missense_Mutation_p.T850I	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	850	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					AGAGGTCACTGTGCCATGGAC	0.542												
TNR	7143	broad.mit.edu	37	1	175360460	175360460	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:175360460C>T	uc001gkp.1	-	5	1552	c.1471G>A	c.(1471-1473)GCC>ACC	p.A491T	TNR_uc009wwu.1_Missense_Mutation_p.A491T	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	491	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					GGGCTGCGGGCCTGTTCTTTC	0.547												
PAPPA2	60676	broad.mit.edu	37	1	176738824	176738824	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:176738824C>T	uc001gkz.2	+	16	5569	c.4405C>T	c.(4405-4407)CCG>TCG	p.P1469S	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1469	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TGTTCCCGACCCGTCTTTGGT	0.502												
ASTN1	460	broad.mit.edu	37	1	177001852	177001852	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:177001852T>C	uc001glc.2	-	3	817	c.605A>G	c.(604-606)CAC>CGC	p.H202R	ASTN1_uc001glb.1_Missense_Mutation_p.H202R|ASTN1_uc001gld.1_Missense_Mutation_p.H202R|ASTN1_uc009wwx.1_Missense_Mutation_p.H202R|ASTN1_uc001gle.3_RNA	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	202					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						AGGAATGTAGTGAATCTCATT	0.642												
RASAL2	9462	broad.mit.edu	37	1	178425926	178425926	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:178425926C>T	uc001glr.2	+	11	1984	c.1859C>T	c.(1858-1860)ACG>ATG	p.T620M	RASAL2_uc001glq.2_Missense_Mutation_p.T761M|RASAL2_uc009wxc.2_Missense_Mutation_p.T134M	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	620					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						ACTAATCCTACGCCAATACAA	0.473												
ABL2	27	broad.mit.edu	37	1	179077212	179077212	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:179077212C>A	uc001gmj.3	-	12	3477	c.3190G>T	c.(3190-3192)GGT>TGT	p.G1064C	ABL2_uc010pnf.1_Missense_Mutation_p.G961C|ABL2_uc010png.1_Missense_Mutation_p.G940C|ABL2_uc010pnh.1_Missense_Mutation_p.G1043C|ABL2_uc001gmg.3_Missense_Mutation_p.G946C|ABL2_uc001gmi.3_Missense_Mutation_p.G1049C|ABL2_uc001gmh.3_Missense_Mutation_p.G1028C|ABL2_uc010pne.1_Missense_Mutation_p.G925C	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	1064	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	ACTTTAGTACCTGCTGTGCCA	0.537			T	ETV6	AML							
ABL2	27	broad.mit.edu	37	1	179089336	179089336	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:179089336A>G	uc001gmj.3	-	6	1321	c.1034T>C	c.(1033-1035)GTA>GCA	p.V345A	ABL2_uc010pnf.1_Missense_Mutation_p.V345A|ABL2_uc010png.1_Missense_Mutation_p.V324A|ABL2_uc010pnh.1_Missense_Mutation_p.V324A|ABL2_uc009wxe.2_Missense_Mutation_p.V324A|ABL2_uc001gmg.3_Missense_Mutation_p.V330A|ABL2_uc001gmi.3_Missense_Mutation_p.V330A|ABL2_uc001gmh.3_Missense_Mutation_p.V309A|ABL2_uc010pne.1_Missense_Mutation_p.V309A|ABL2_uc009wxf.1_Missense_Mutation_p.V330A|ABL2_uc001gmk.2_Missense_Mutation_p.V309A	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	345	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TAAAAGTTGTACCAGATTAGG	0.373			T	ETV6	AML							
CACNA1E	777	broad.mit.edu	37	1	181702772	181702772	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:181702772G>A	uc001gow.2	+	21	3313	c.3148G>A	c.(3148-3150)GAG>AAG	p.E1050K	CACNA1E_uc009wxs.2_Missense_Mutation_p.E938K|CACNA1E_uc001gox.1_Missense_Mutation_p.E276K|CACNA1E_uc009wxt.2_Missense_Mutation_p.E276K	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1050	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						CAGCCAGAGCGAGCCTGACCT	0.652												
CACNA1E	777	broad.mit.edu	37	1	181754546	181754546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:181754546G>T	uc001gow.2	+	42	5836	c.5671G>T	c.(5671-5673)GAG>TAG	p.E1891*	CACNA1E_uc009wxs.2_Nonsense_Mutation_p.E1779*|CACNA1E_uc009wxt.2_Nonsense_Mutation_p.E1117*	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1891	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						GCAGCAGCTGGAGGAACAGGT	0.532												
LAMC1	3915	broad.mit.edu	37	1	182993180	182993180	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:182993180A>G	uc001gpy.3	+	1	586	c.329A>G	c.(328-330)AAC>AGC	p.N110S	LAMC1_uc001gpx.2_Missense_Mutation_p.N110S	NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	110	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCGACTACAACAACCAGGCC	0.657											OREG0014040	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LAMC1	3915	broad.mit.edu	37	1	183079744	183079744	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:183079744C>T	uc001gpy.3	+	4	1233	c.976C>T	c.(976-978)CGG>TGG	p.R326W		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	326	Laminin EGF-like 1.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTCAATGACCGGCCGTGGAG	0.478												
SMG7	9887	broad.mit.edu	37	1	183510196	183510196	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:183510196G>A	uc001gqg.2	+	13	1495	c.1373G>A	c.(1372-1374)CGC>CAC	p.R458H	SMG7_uc010pob.1_Missense_Mutation_p.R487H|SMG7_uc001gqf.2_Missense_Mutation_p.R458H|SMG7_uc001gqh.2_Missense_Mutation_p.R458H|SMG7_uc001gqi.2_Missense_Mutation_p.R416H|SMG7_uc010poc.1_Missense_Mutation_p.R416H	NM_173156	NP_775179	Q92540	SMG7_HUMAN	SMG-7 homolog isoform 1	458					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CGACAGCAACGCTTGATCTCT	0.423												
C1orf26	54823	broad.mit.edu	37	1	185151180	185151180	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:185151180T>C	uc001grg.3	+	7	1243	c.1129T>C	c.(1129-1131)TCC>CCC	p.S377P	C1orf26_uc001grh.3_Missense_Mutation_p.S377P	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	377											0						TGATGTACATTCCTCCTCTGG	0.353												
HMCN1	83872	broad.mit.edu	37	1	186056769	186056769	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:186056769A>G	uc001grq.1	+	60	9584	c.9355A>G	c.(9355-9357)AAA>GAA	p.K3119E		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3119	Ig-like C2-type 29.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ACACATTAAGAAAGCTGAGGT	0.428												
HMCN1	83872	broad.mit.edu	37	1	186060030	186060030	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:186060030G>T	uc001grq.1	+	64	10097	c.9868G>T	c.(9868-9870)GGT>TGT	p.G3290C		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3290	Ig-like C2-type 31.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CATAGCTAGTGGTGAAACAGA	0.358												
PRG4	10216	broad.mit.edu	37	1	186276815	186276815	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:186276815A>G	uc001gru.3	+	7	2015	c.1964A>G	c.(1963-1965)GAG>GGG	p.E655G	PRG4_uc001grt.3_Missense_Mutation_p.E614G|PRG4_uc009wyl.2_Missense_Mutation_p.E562G|PRG4_uc009wym.2_Missense_Mutation_p.E521G|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	655	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						ACCCCTGAGGAGCCCACACCC	0.672												
PLA2G4A	5321	broad.mit.edu	37	1	186880397	186880397	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:186880397G>A	uc001gsc.2	+	7	639	c.434G>A	c.(433-435)CGA>CAA	p.R145Q	PLA2G4A_uc010pos.1_Intron	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	145	Phospholipid binding (Probable).|PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	CCAGACCTACGATTTAGTATG	0.453												
FAM5C	339479	broad.mit.edu	37	1	190129864	190129864	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:190129864A>T	uc001gse.1	-	7	1350	c.1118T>A	c.(1117-1119)GTA>GAA	p.V373E	FAM5C_uc010pot.1_Missense_Mutation_p.V271E	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	373						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					AAGCTTGTGTACAATTTTCTG	0.388												
FAM5C	339479	broad.mit.edu	37	1	190129921	190129921	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:190129921C>T	uc001gse.1	-	7	1293	c.1061G>A	c.(1060-1062)CGT>CAT	p.R354H	FAM5C_uc010pot.1_Missense_Mutation_p.R252H	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	354						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TTGTTCATAACGGCGCTGAAA	0.363												
RGS21	431704	broad.mit.edu	37	1	192316519	192316519	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:192316519G>T	uc001gsh.2	+	3	262	c.88G>T	c.(88-90)GCT>TCT	p.A30S		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	30	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|skin(1)	2						AGCCAACCAAGGTAAGATTTA	0.299												
ASPM	259266	broad.mit.edu	37	1	197069676	197069676	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:197069676T>C	uc001gtu.2	-	18	8962	c.8705A>G	c.(8704-8706)CAA>CGA	p.Q2902R	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.Q750R	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2902					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						GACTTGTCTTTGATGTTTTGC	0.328												
DENND1B	163486	broad.mit.edu	37	1	197611862	197611862	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:197611862A>G	uc001guf.3	-	10	989	c.651T>C	c.(649-651)ATT>ATC	p.I217I	DENND1B_uc010ppe.1_Silent_p.I197I|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Silent_p.I187I|DENND1B_uc001gug.3_Silent_p.I16I	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 2	217	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0						TGCTCGAGATAATCACGATGC	0.383												
CAMSAP1L1	23271	broad.mit.edu	37	1	200818775	200818775	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:200818775C>T	uc001gvl.2	+	12	3181	c.2911C>T	c.(2911-2913)CCA>TCA	p.P971S	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.P960S|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.P944S	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	971						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TCACCCATCTCCACAGTCTTC	0.438												
IGFN1	91156	broad.mit.edu	37	1	201190657	201190657	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:201190657G>T	uc001gwc.2	+	8	2236	c.1464G>T	c.(1462-1464)CAG>CAT	p.Q488H	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						CAGACACCCAGGAAGGGGATG	0.617												
PKP1	5317	broad.mit.edu	37	1	201282596	201282596	+	Silent	SNP	G	G	A	rs148914791		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:201282596G>A	uc001gwd.2	+	3	860	c.609G>A	c.(607-609)CCG>CCA	p.P203P	PKP1_uc001gwe.2_Silent_p.P203P|PKP1_uc009wzm.2_Intron	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	203					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			ovary(2)	2						CTGTGCGCCCGCCCTCTTGTG	0.597												
NAV1	89796	broad.mit.edu	37	1	201618347	201618347	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:201618347C>T	uc001gwu.2	+	1	898	c.551C>T	c.(550-552)CCG>CTG	p.P184L		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	184					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						GAGGTCAAGCCGCTCAGCAAG	0.687												
RNPEP	6051	broad.mit.edu	37	1	201970518	201970518	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:201970518G>A	uc001gxd.2	+	7	1248	c.1219G>A	c.(1219-1221)GAC>AAC	p.D407N	RNPEP_uc001gxe.2_Missense_Mutation_p.D108N|RNPEP_uc001gxf.2_Missense_Mutation_p.D276N	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase	407					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TGACCCGGACGACACCTATAA	0.488												
SYT2	127833	broad.mit.edu	37	1	202569569	202569569	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:202569569G>A	uc001gye.2	-	7	1028	c.835C>T	c.(835-837)CGC>TGC	p.R279C	SYT2_uc010pqb.1_Missense_Mutation_p.R279C|SYT2_uc009xaf.2_Missense_Mutation_p.R109C	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	synaptotagmin II	279	Phospholipid binding (By similarity).|C2 2.|Cytoplasmic (Potential).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GGCACATAGCGCAGGGAGGTG	0.602											OREG0014101	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SYT2	127833	broad.mit.edu	37	1	202572238	202572238	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:202572238G>A	uc001gye.2	-	4	547	c.354C>T	c.(352-354)GAC>GAT	p.D118D	SYT2_uc010pqb.1_Silent_p.D118D|SYT2_uc009xaf.2_Translation_Start_Site	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	synaptotagmin II	118	Cytoplasmic (Potential).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TCTCTGCGTCGTCGTCATCCT	0.562												
MYOG	4656	broad.mit.edu	37	1	203055031	203055031	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:203055031T>C	uc001gzd.2	-	1	347	c.59A>G	c.(58-60)GAA>GGA	p.E20G		NM_002479	NP_002470	P15173	MYOG_HUMAN	myogenin	20					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			skin(2)	2						CAGGTAGTTTTCCCCATCATA	0.617												
MYBPH	4608	broad.mit.edu	37	1	203143632	203143632	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:203143632A>G	uc001gzh.1	-	3	493	c.434T>C	c.(433-435)GTG>GCG	p.V145A	FMOD_uc010pqi.1_Intron	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	myosin binding protein H	145	Fibronectin type-III 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle				0			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CACTGCAGACACGCGCAGGAG	0.632												
CHIT1	1118	broad.mit.edu	37	1	203192702	203192702	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:203192702C>T	uc001gzn.2	-	5	497	c.401G>A	c.(400-402)GGC>GAC	p.G134D	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.G125D	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	134					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0						AAGGTCAAGGCCGTCAAAGCT	0.582												
OPTC	26254	broad.mit.edu	37	1	203467949	203467949	+	Missense_Mutation	SNP	G	G	A	rs75709549	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:203467949G>A	uc001gzu.1	+	4	627	c.511G>A	c.(511-513)GAA>AAA	p.E171K		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	171	LRR 1.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.109)			TATCAGGGCCGAAGACTTCAA	0.537												
LRRN2	10446	broad.mit.edu	37	1	204588366	204588366	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:204588366A>G	uc001hbe.1	-	3	1143	c.755T>C	c.(754-756)GTG>GCG	p.V252A	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.V252A|LRRN2_uc009xbf.1_Missense_Mutation_p.V252A|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	252	Extracellular (Potential).|LRR 8.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CCGCCTGGGCACCCGGGCCAG	0.632												
LRRN2	10446	broad.mit.edu	37	1	204589060	204589060	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:204589060G>A	uc001hbe.1	-	3	449	c.61C>T	c.(61-63)CCC>TCC	p.P21S	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.P21S|LRRN2_uc009xbf.1_Missense_Mutation_p.P21S|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	21	Extracellular (Potential).|LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGTACCACGGGCACAGCGGCA	0.647												
NFASC	23114	broad.mit.edu	37	1	204985509	204985509	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:204985509G>A	uc001hbj.2	+	30	3893	c.3565G>A	c.(3565-3567)GAC>AAC	p.D1189N	NFASC_uc010pra.1_Missense_Mutation_p.D1123N|NFASC_uc001hbi.2_Missense_Mutation_p.D1118N|NFASC_uc010prb.1_Missense_Mutation_p.D1138N|NFASC_uc010prc.1_Missense_Mutation_p.D689N|NFASC_uc001hbl.1_Missense_Mutation_p.D265N|NFASC_uc001hbm.1_Missense_Mutation_p.D212N|NFASC_uc009xbh.1_Silent_p.T43T|NFASC_uc001hbo.1_Silent_p.T64T	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	1296	Cytoplasmic (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGAGAGTGACGACAGCCTGGT	0.552												
DSTYK	25778	broad.mit.edu	37	1	205130412	205130412	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:205130412C>T	uc001hbw.2	-	7	1986	c.1922G>A	c.(1921-1923)TGT>TAT	p.C641Y	DSTYK_uc001hbx.2_Missense_Mutation_p.C641Y|DSTYK_uc001hby.1_Missense_Mutation_p.C102Y	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	641				C -> R (in Ref. 1; AAP42418/AAS55390, 2; AAF65505, 4; AAH53627/AAH72406/AAI17412/ AAI43604 and 5; BAA32317).		cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						CTGTAAAGAACAGCTTTCCAG	0.502												
CDK18	5129	broad.mit.edu	37	1	205496979	205496979	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:205496979C>T	uc001hcr.2	+	9	1096	c.877C>T	c.(877-879)CAC>TAC	p.H293Y	CDK18_uc001hcp.2_Missense_Mutation_p.H263Y|CDK18_uc001hcq.2_Missense_Mutation_p.H263Y|CDK18_uc010prj.1_Missense_Mutation_p.H174Y|CDK18_uc001hcs.2_Missense_Mutation_p.H174Y|CDK18_uc009xbm.1_Missense_Mutation_p.H188Y|CDK18_uc001hct.2_5'Flank	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	261	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			stomach(2)	2						CAAGATCCTGCACCGGGACCT	0.627												
C1orf186	440712	broad.mit.edu	37	1	206241649	206241649	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:206241649G>A	uc001hdt.1	-	4	779	c.140C>T	c.(139-141)GCG>GTG	p.A47V		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	hypothetical protein LOC440712	47						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GAGACTGGCCGCTTTCAGTAT	0.443												
LGTN	1939	broad.mit.edu	37	1	206784635	206784635	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:206784635A>G	uc001heh.2	-	2	358	c.149T>C	c.(148-150)ATT>ACT	p.I50T	LGTN_uc009xbw.2_Missense_Mutation_p.I50T|LGTN_uc010prw.1_Missense_Mutation_p.I50T	NM_006893	NP_008824	P41214	EIF2D_HUMAN	ligatin	50					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CAACTTCACAATGTTGAGCTC	0.473												
DYRK3	8444	broad.mit.edu	37	1	206821130	206821130	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:206821130C>T	uc001hej.2	+	3	755	c.587C>T	c.(586-588)GCC>GTC	p.A196V	DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.A176V	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	196					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|central_nervous_system(1)	3	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GCAGATGGGGCCTATATTCAT	0.428												
CR1	1378	broad.mit.edu	37	1	207739262	207739262	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:207739262T>C	uc001hfy.2	+	16	2736	c.2596T>C	c.(2596-2598)TGT>CGT	p.C866R	CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Missense_Mutation_p.C1316R|CR1_uc009xck.1_Intron	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	866	Extracellular (Potential).|Sushi 13.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TGTTCCAGTGTGTGAACGTGA	0.413												
PLXNA2	5362	broad.mit.edu	37	1	208202363	208202363	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:208202363G>A	uc001hgz.2	-	30	6008	c.5250C>T	c.(5248-5250)AAC>AAT	p.N1750N	PLXNA2_uc001hgy.2_Silent_p.N20N	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1750	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCTTAATCACGTTCACCCAGA	0.567												
IRF6	3664	broad.mit.edu	37	1	209965706	209965706	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:209965706C>T	uc001hhq.1	-	6	838	c.575G>A	c.(574-576)TGG>TAG	p.W192*	IRF6_uc010psm.1_Nonsense_Mutation_p.W97*|IRF6_uc009xct.1_Nonsense_Mutation_p.W192*	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	192					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AGTTTTGGGCCACACTGCCTC	0.547										HNSCC(57;0.16)		
DTL	51514	broad.mit.edu	37	1	212274197	212274197	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:212274197C>T	uc009xdc.2	+	14	2179	c.1865C>T	c.(1864-1866)CCG>CTG	p.P622L	DTL_uc010ptb.1_Missense_Mutation_p.P580L|DTL_uc001hiz.3_Missense_Mutation_p.P351L	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	denticleless homolog	622					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCAGAGCCTCCGTCTCCTATC	0.478												
USH2A	7399	broad.mit.edu	37	1	215847625	215847625	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:215847625C>A	uc001hku.1	-	63	14015	c.13628G>T	c.(13627-13629)AGG>ATG	p.R4543M		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4543	Fibronectin type-III 31.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGAGGACCCCTGGCCTGCAA	0.488										HNSCC(13;0.011)		
USH2A	7399	broad.mit.edu	37	1	216166450	216166450	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:216166450G>A	uc001hku.1	-	35	7104	c.6717C>T	c.(6715-6717)GAC>GAT	p.D2239D		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2239	Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTCGGGTATGTCCTCGTCAG	0.522										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SPATA17	128153	broad.mit.edu	37	1	218036193	218036193	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:218036193A>G	uc001hlh.1	+	10	1109	c.1083A>G	c.(1081-1083)GTA>GTG	p.V361V	SPATA17_uc001hli.2_Silent_p.V361V	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	361						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		GACAGATTGTATAAAGGTATG	0.289												
SLC30A10	55532	broad.mit.edu	37	1	220091799	220091799	+	Silent	SNP	G	G	A	rs143340726		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:220091799G>A	uc001hlw.2	-	3	967	c.756C>T	c.(754-756)TCC>TCT	p.S252S	SLC30A10_uc001hlu.1_RNA|SLC30A10_uc001hlv.2_Silent_p.S7S|SLC30A10_uc001hlx.2_Silent_p.S27S	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	solute carrier family 30 (zinc transporter),	252	Helical; (Potential).				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CCACAACCACGGACCCCAGGG	0.527												
BPNT1	10380	broad.mit.edu	37	1	220233097	220233097	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:220233097C>T	uc001hma.2	-	8	881	c.709G>A	c.(709-711)GTA>ATA	p.V237I	BPNT1_uc010pug.1_Missense_Mutation_p.V182I|BPNT1_uc010puh.1_Missense_Mutation_p.V201I|BPNT1_uc001hmb.3_Missense_Mutation_p.V252I	NM_006085	NP_006076	O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	237					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0558)		CTTGCAAATACATAAGCAGAG	0.343												
MARK1	4139	broad.mit.edu	37	1	220825486	220825486	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:220825486G>A	uc001hmn.3	+	15	2327	c.1730G>A	c.(1729-1731)CGG>CAG	p.R577Q	MARK1_uc009xdw.2_Missense_Mutation_p.R577Q|MARK1_uc010pun.1_Missense_Mutation_p.R577Q|MARK1_uc001hmm.3_Missense_Mutation_p.R555Q	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	577					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		GAAGCTTACCGGCCTGGGTAA	0.438												
HLX	3142	broad.mit.edu	37	1	221057925	221057925	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:221057925C>T	uc001hmv.3	+	4	1803	c.1346C>T	c.(1345-1347)GCG>GTG	p.A449V		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	449	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)		agcaccagtgcgggttgcgcc	0.249												
TAF1A	9015	broad.mit.edu	37	1	222732052	222732052	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:222732052G>A	uc009xdz.1	-	11	1492	c.1303C>T	c.(1303-1305)CGG>TGG	p.R435W	TAF1A_uc009xdy.1_Missense_Mutation_p.R126W|TAF1A_uc001hni.1_Missense_Mutation_p.R321W|TAF1A_uc001hnj.2_Missense_Mutation_p.R435W|TAF1A_uc001hnk.2_Missense_Mutation_p.R321W	NM_139352	NP_647603	Q15573	TAF1A_HUMAN	TBP-associated factor 1A isoform 2	435					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding				0				GBM - Glioblastoma multiforme(131;0.0186)		CTCTTCATCCGCTTAATTTTC	0.303												
FBXO28	23219	broad.mit.edu	37	1	224302029	224302029	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:224302029G>A	uc001hoh.2	+	1	239	c.198G>A	c.(196-198)GCG>GCA	p.A66A	FBXO28_uc009xef.2_Silent_p.A66A|FBXO28_uc010pvc.1_5'UTR	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	F-box protein 28 isoform a	66	F-box.									ovary(2)|kidney(2)|lung(1)	5	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		CGCTTGTGGCGCTGCCCATCG	0.667												
NVL	4931	broad.mit.edu	37	1	224488309	224488309	+	Silent	SNP	G	G	A	rs143457273		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:224488309G>A	uc001hok.2	-	10	1060	c.1017C>T	c.(1015-1017)TCC>TCT	p.S339S	NVL_uc001hol.2_Silent_p.S233S|NVL_uc010pvd.1_Silent_p.S248S|NVL_uc010pve.1_Silent_p.S150S|NVL_uc010pvf.1_RNA	NM_002533	NP_002524	O15381	NVL_HUMAN	nuclear VCP-like isoform 1	339						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			skin(2)	2				GBM - Glioblastoma multiforme(131;0.00501)		CAGACTCTCCGGATACTCCAG	0.408												
PSEN2	5664	broad.mit.edu	37	1	227076545	227076545	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:227076545C>A	uc009xeo.1	+	8	1009	c.582C>A	c.(580-582)ACC>ACA	p.T194T	PSEN2_uc009xep.1_Silent_p.T194T|PSEN2_uc001hqk.2_RNA	NM_000447	NP_000438	P49810	PSN2_HUMAN	presenilin 2 isoform 1	194	Lumenal (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			lung(2)	2		Prostate(94;0.0771)				TGCTCAAGACCTACAATGTGG	0.582												
C1orf35	79169	broad.mit.edu	37	1	228290076	228290076	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:228290076C>T	uc001hrx.2	-	5	476	c.382G>A	c.(382-384)GTG>ATG	p.V128M	C1orf35_uc009xew.2_RNA	NM_024319	NP_077295	Q9BU76	MMTA2_HUMAN	hypothetical protein LOC79169	128											0		Prostate(94;0.0488)				ACGCGGCCCACGGAGCCACTG	0.687												
C1orf69	200205	broad.mit.edu	37	1	228362618	228362618	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:228362618G>A	uc001hsl.3	+	2	656	c.567G>A	c.(565-567)CCG>CCA	p.P189P	C1orf69_uc010pvw.1_5'UTR	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	hypothetical protein LOC200205 precursor	189					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity				0		Prostate(94;0.0405)				TCCGCGACCCGCGAACAGCAC	0.701												
OBSCN	84033	broad.mit.edu	37	1	228430986	228430986	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:228430986C>T	uc009xez.1	+	10	3076	c.3032C>T	c.(3031-3033)ACG>ATG	p.T1011M	OBSCN_uc001hsn.2_Missense_Mutation_p.T1011M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1011	Ig-like 10.			T -> A (in Ref. 1; CAC44768).	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CAGGCCCAGACGGAGGTGATG	0.622												
OBSCN	84033	broad.mit.edu	37	1	228468439	228468439	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:228468439C>T	uc009xez.1	+	30	8183	c.8139C>T	c.(8137-8139)GCC>GCT	p.A2713A	OBSCN_uc001hsn.2_Silent_p.A2713A|OBSCN_uc001hsp.1_Silent_p.A412A|OBSCN_uc001hsq.1_5'UTR	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2713	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CTGAAGACGCCGGCCTGTACA	0.692												
OBSCN	84033	broad.mit.edu	37	1	228469719	228469719	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:228469719C>T	uc009xez.1	+	31	8327	c.8283C>T	c.(8281-8283)CAC>CAT	p.H2761H	OBSCN_uc001hsn.2_Silent_p.H2761H|OBSCN_uc001hsp.1_Silent_p.H460H|OBSCN_uc001hsq.1_Silent_p.H17H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2761	Ig-like 27.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TCCTGTCCCACGAGAGTGCCA	0.612												
OBSCN	84033	broad.mit.edu	37	1	228475464	228475464	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:228475464G>A	uc009xez.1	+	36	9658	c.9614G>A	c.(9613-9615)CGC>CAC	p.R3205H	OBSCN_uc001hsn.2_Missense_Mutation_p.R3205H|OBSCN_uc001hsq.1_Missense_Mutation_p.R461H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3205	Ig-like 32.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCCACACTGCGCTGTGTGCTG	0.632												
TRIM11	81559	broad.mit.edu	37	1	228582509	228582509	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:228582509G>A	uc001hss.2	-	6	1559	c.1304C>T	c.(1303-1305)TCG>TTG	p.S435L	TRIM11_uc010pvx.1_Missense_Mutation_p.S434L	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	tripartite motif-containing 11	435	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			lung(3)|ovary(1)	4		Prostate(94;0.0724)				CAGCGTCCCCGAGAAGGGGAT	0.627												
TRIM17	51127	broad.mit.edu	37	1	228596398	228596398	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:228596398C>T	uc001hsu.2	-	7	1323	c.938G>A	c.(937-939)AGC>AAC	p.S313N	TRIM11_uc001hss.2_5'Flank|TRIM11_uc010pvx.1_5'Flank|TRIM11_uc001hst.1_5'Flank|TRIM17_uc001hsv.2_Missense_Mutation_p.S313N|TRIM17_uc001hsw.2_Missense_Mutation_p.S286N	NM_016102	NP_057186	Q9Y577	TRI17_HUMAN	tripartite motif-containing 17 isoform 1	313	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Prostate(94;0.0724)				CCTCTGGCGGCTCTCATACAG	0.637												
TAF5L	27097	broad.mit.edu	37	1	229738579	229738579	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:229738579G>A	uc001htq.2	-	4	501	c.335C>T	c.(334-336)CCG>CTG	p.P112L	TAF5L_uc001htr.2_Missense_Mutation_p.P112L	NM_014409	NP_055224	O75529	TAF5L_HUMAN	PCAF associated factor 65 beta isoform a	112					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TGTGCTCTTCGGACTGTTTTG	0.463												
PGBD5	79605	broad.mit.edu	37	1	230492809	230492809	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:230492809C>T	uc010pwb.1	-	2	383	c.383G>A	c.(382-384)CGC>CAC	p.R128H	PGBD5_uc001htv.2_Missense_Mutation_p.R227H	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	128						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GGCGAGGCTGCGGTTGCTGTA	0.617												
COG2	22796	broad.mit.edu	37	1	230827229	230827229	+	Silent	SNP	C	C	T	rs137925176		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:230827229C>T	uc001htw.2	+	17	2185	c.2034C>T	c.(2032-2034)CCC>CCT	p.P678P	COG2_uc001htx.2_Silent_p.P677P|COG2_uc010pwc.1_Silent_p.P551P	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	678					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCGCCAACCCCGTCGGTCCCA	0.527												
LYST	1130	broad.mit.edu	37	1	235969335	235969335	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:235969335A>G	uc001hxj.2	-	6	3276	c.3101T>C	c.(3100-3102)ATG>ACG	p.M1034T	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.M1034T	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1034					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATCTTCCTTCATAGTTCTCTT	0.353									Chediak-Higashi_syndrome			
LYST	1130	broad.mit.edu	37	1	235971775	235971775	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:235971775C>T	uc001hxj.2	-	5	2518	c.2343G>A	c.(2341-2343)CTG>CTA	p.L781L	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.L781L	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	781					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCAGGATAGGCAGAGTTTTTA	0.458									Chediak-Higashi_syndrome			
GPR137B	7107	broad.mit.edu	37	1	236306321	236306321	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:236306321C>A	uc001hxq.2	+	1	490	c.399C>A	c.(397-399)AAC>AAA	p.N133K		NM_003272	NP_003263	O60478	G137B_HUMAN	G protein-coupled receptor 137B	133	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction					0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CGCTGATGAACTTGTACTTCA	0.632												
MTR	4548	broad.mit.edu	37	1	236987485	236987485	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:236987485T>C	uc001hyi.3	+	9	1254	c.831T>C	c.(829-831)TGT>TGC	p.C277C	MTR_uc010pxw.1_5'UTR|MTR_uc010pxx.1_Silent_p.C277C|MTR_uc010pxy.1_Silent_p.C277C|MTR_uc009xgj.1_Intron	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	277	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TTGGAAAATGTACAACAGCCT	0.368												
RYR2	6262	broad.mit.edu	37	1	237837411	237837411	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:237837411C>A	uc001hyl.1	+	59	8726	c.8606C>A	c.(8605-8607)CCT>CAT	p.P2869H	RYR2_uc010pxz.1_5'Flank	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2869	Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|4.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAAACCATCCTCTGCTGGTG	0.418												
RYR2	6262	broad.mit.edu	37	1	237969570	237969570	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:237969570A>G	uc001hyl.1	+	99	14405	c.14285A>G	c.(14284-14286)CAC>CGC	p.H4762R	RYR2_uc010pyb.1_Missense_Mutation_p.H195R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4762					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAGTAACTCACAATGGCAAA	0.353												
FMN2	56776	broad.mit.edu	37	1	240255470	240255470	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:240255470G>A	uc010pyd.1	+	1	286	c.61G>A	c.(61-63)GGT>AGT	p.G21S	FMN2_uc010pye.1_Missense_Mutation_p.G21S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	21					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGAAGGCGGCGGTGGCGCCGA	0.667												
FMN2	56776	broad.mit.edu	37	1	240257004	240257004	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:240257004G>A	uc010pyd.1	+	1	1820	c.1595G>A	c.(1594-1596)GGC>GAC	p.G532D	FMN2_uc010pye.1_Missense_Mutation_p.G532D	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	532					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCTGCGGATGGCTTCCAGAAC	0.726												
KMO	8564	broad.mit.edu	37	1	241729893	241729893	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:241729893G>A	uc009xgp.2	+	9	855	c.790G>A	c.(790-792)GCC>ACC	p.A264T	KMO_uc001hyy.2_Missense_Mutation_p.A264T|KMO_uc009xgo.1_Missense_Mutation_p.A264T	NM_003679	NP_003670	O15229	KMO_HUMAN	kynurenine 3-monooxygenase	264					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			ovary(2)	2	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			CTTTCCGGATGCCATCCCTCT	0.353												
KIF26B	55083	broad.mit.edu	37	1	245849096	245849096	+	Silent	SNP	C	C	T	rs145851394	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:245849096C>T	uc001ibf.1	+	12	3251	c.2811C>T	c.(2809-2811)GAC>GAT	p.D937D	KIF26B_uc001ibg.1_Silent_p.D555D|KIF26B_uc001ibh.1_Silent_p.D179D	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	937					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACTGCATCGACGGCAGCGAGG	0.637												
SCCPDH	51097	broad.mit.edu	37	1	246927597	246927597	+	Missense_Mutation	SNP	A	A	G	rs17856752		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:246927597A>G	uc001ibr.2	+	10	1387	c.1040A>G	c.(1039-1041)CAA>CGA	p.Q347R		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	347				Q -> R (in Ref. 4; AAH26185).		midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			ovary(1)	1	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GGATACAGCCAAGGCACTGGT	0.403												
AHCTF1	25909	broad.mit.edu	37	1	247024358	247024358	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:247024358C>T	uc001ibu.1	-	28	3982	c.3975G>A	c.(3973-3975)CCG>CCA	p.P1325P	AHCTF1_uc001ibv.1_Silent_p.P1334P|AHCTF1_uc009xgs.1_Silent_p.P186P|AHCTF1_uc001ibw.1_RNA	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1325	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTCCGGTGACGGTGCATCCT	0.443												
OR2C3	81472	broad.mit.edu	37	1	247694926	247694926	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:247694926C>T	uc009xgy.2	-	2	1250	c.888G>A	c.(886-888)ACG>ACA	p.T296T	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TCTTCACCTCCGTGTTCCTCA	0.542												
C1orf150	148823	broad.mit.edu	37	1	247737543	247737543	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:247737543T>C	uc001idf.2	+	5	312	c.267T>C	c.(265-267)TAT>TAC	p.Y89Y	C1orf150_uc009xgw.2_RNA|C1orf150_uc001ida.3_RNA|C1orf150_uc001idb.3_RNA|C1orf150_uc009xgx.2_RNA	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	hypothetical protein LOC148823	89											0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			ATGATGGCTATGAGAACATTG	0.453												
OR2L2	26246	broad.mit.edu	37	1	248202060	248202060	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:248202060G>A	uc001idw.2	+	1	587	c.491G>A	c.(490-492)TGT>TAT	p.C164Y	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	164	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TATGCACTCTGTATCCCATAT	0.428												
OR2L2	26246	broad.mit.edu	37	1	248202128	248202128	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:248202128G>A	uc001idw.2	+	1	655	c.559G>A	c.(559-561)GCC>ACC	p.A187T	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GTTGACGCTAGCCTGCACAGA	0.458												
OR2T11	127077	broad.mit.edu	37	1	248790058	248790058	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:248790058A>G	uc001ier.1	-	1	372	c.372T>C	c.(370-372)TGT>TGC	p.C124C		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGAGGGTTACAGACAGCCA	0.547												
SH3BP5L	80851	broad.mit.edu	37	1	249106189	249106189	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:249106189G>A	uc001iew.1	-	7	1644	c.1092C>T	c.(1090-1092)GAC>GAT	p.D364D	SH3BP5L_uc010pzp.1_Silent_p.D257D|SH3BP5L_uc010pzq.1_Silent_p.D332D|SH3BP5L_uc001iev.1_Silent_p.D245D	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	364											0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCTCTTGGCCGTCCAGACTGA	0.697												
DIP2C	22982	broad.mit.edu	37	10	394683	394683	+	Silent	SNP	C	C	T	rs148872343		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:394683C>T	uc001ifp.2	-	26	3219	c.3129G>A	c.(3127-3129)GCG>GCA	p.A1043A	DIP2C_uc009xhi.1_Silent_p.A429A	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	1043						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AACCATAAAACGCTGCTATCA	0.527												
LARP4B	23185	broad.mit.edu	37	10	875436	875436	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:875436C>T	uc001ifs.1	-	10	1055	c.1014G>A	c.(1012-1014)GCG>GCA	p.A338A		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	338							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AGAACGACGTCGCGTAGCGCT	0.532												
WDR37	22884	broad.mit.edu	37	10	1151106	1151106	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:1151106C>A	uc001igf.1	+	11	1175	c.1002C>A	c.(1000-1002)ACC>ACA	p.T334T	WDR37_uc009xhm.1_Silent_p.T335T|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_RNA	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	334	WD 4.										0		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CACACCCCACCCAGCGGCTCG	0.592												
ADARB2	105	broad.mit.edu	37	10	1405277	1405277	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:1405277G>A	uc009xhq.2	-	3	1397	c.1023C>T	c.(1021-1023)GAC>GAT	p.D341D		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	341	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCATCTGGATGTCGAACAGCT	0.756												
IL2RA	3559	broad.mit.edu	37	10	6066311	6066311	+	Missense_Mutation	SNP	C	C	A	rs139340259	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:6066311C>A	uc001iiz.1	-	3	422	c.263G>T	c.(262-264)CGG>CTG	p.R88L	IL2RA_uc009xih.1_Missense_Mutation_p.R88L|IL2RA_uc001ija.1_Missense_Mutation_p.R50L	NM_000417	NP_000408	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha chain precursor	88	Extracellular (Potential).				cell proliferation	integral to membrane	interleukin-2 receptor activity			ovary(1)|skin(1)	2					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CGTTGTGTTCCGAGTGGCTAG	0.413												
UPF2	26019	broad.mit.edu	37	10	11998338	11998338	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:11998338T>C	uc001ila.2	-	12	3029	c.2555A>G	c.(2554-2556)GAT>GGT	p.D852G	UPF2_uc001ilb.2_Missense_Mutation_p.D852G|UPF2_uc001ilc.2_Missense_Mutation_p.D852G|UPF2_uc009xiz.1_Missense_Mutation_p.D852G	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	852	Binds to UPF3B.|Sufficient for interaction with UPF3A and UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.			ED->KR: Does not abolish interaction with UPF3B. Does not abolish interaction with UPF3B; when associated with D-854.	mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				TAATCGAATATCTTCTAACAC	0.383												
FRMD4A	55691	broad.mit.edu	37	10	13698668	13698668	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:13698668G>A	uc001ims.2	-	22	3273	c.2921C>T	c.(2920-2922)ACC>ATC	p.T974I	FRMD4A_uc009xjf.1_Missense_Mutation_p.T974I	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	974	Ser-rich.					cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3						GGGCATCCTGGTGACCCTGCT	0.667												
CDNF	441549	broad.mit.edu	37	10	14879842	14879842	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:14879842G>A	uc001inb.1	-	1	142	c.104C>T	c.(103-105)GCC>GTC	p.A35V	CDNF_uc010qbv.1_Missense_Mutation_p.A35V|CDNF_uc001inc.1_Intron|HSPA14_uc001ind.2_5'Flank|HSPA14_uc001ine.2_5'Flank|HSPA14_uc010qbw.1_5'Flank|HSPA14_uc001inf.2_5'Flank	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN	arginine-rich, mutated in early stage	35						extracellular region	growth factor activity				0						TTCACAGTCGGCCCCTGGCCG	0.692												
CUBN	8029	broad.mit.edu	37	10	16932371	16932371	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:16932371G>A	uc001ioo.2	-	55	8806	c.8754C>T	c.(8752-8754)AGC>AGT	p.S2918S	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Silent_p.S274S	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2918	CUB 21.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTACTTACGGCTAACAAAGG	0.567												
DNAJC1	64215	broad.mit.edu	37	10	22048227	22048227	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:22048227C>A	uc001irc.2	-	11	1755	c.1468G>T	c.(1468-1470)GCT>TCT	p.A490S	DNAJC1_uc001ird.2_Missense_Mutation_p.A376S	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	490	Cytoplasmic (By similarity).				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GCAGACCGAGCTCTCTCTTTT	0.547												
ARMC3	219681	broad.mit.edu	37	10	23292307	23292307	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:23292307T>C	uc001irm.3	+	13	1778	c.1695T>C	c.(1693-1695)AGT>AGC	p.S565S	ARMC3_uc010qcv.1_Silent_p.S565S|ARMC3_uc010qcw.1_Silent_p.S302S	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	565							binding				0						TGTCATCAAGTAACATAATTA	0.333												
PTF1A	256297	broad.mit.edu	37	10	23482702	23482702	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:23482702A>T	uc001irp.2	+	2	854	c.854A>T	c.(853-855)GAT>GTT	p.D285V		NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	285					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				pancreas(1)|skin(1)	2						TCATGGACTGATGAAAAACAA	0.498												
KIAA1217	56243	broad.mit.edu	37	10	24825774	24825774	+	Silent	SNP	C	C	T	rs138675828	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:24825774C>T	uc001iru.3	+	17	3889	c.3486C>T	c.(3484-3486)CAC>CAT	p.H1162H	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Silent_p.H1126H|KIAA1217_uc010qcz.1_Silent_p.H1127H|KIAA1217_uc001irw.2_Silent_p.H845H|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Silent_p.H845H|KIAA1217_uc001iry.2_Silent_p.H845H	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1162					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						CTGACAGTCACGTTAAAGACA	0.488												
ENKUR	219670	broad.mit.edu	37	10	25273739	25273739	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:25273739C>T	uc001isg.1	-	5	855	c.690G>A	c.(688-690)CTG>CTA	p.L230L	ENKUR_uc001ish.1_Silent_p.L168L	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	enkurin	230						cilium|flagellum	calmodulin binding|SH3 domain binding				0						TTTCTTCTTCCAGCCTCTGCT	0.378												
GPR158	57512	broad.mit.edu	37	10	25464593	25464593	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:25464593G>A	uc001isj.2	+	1	304	c.244G>A	c.(244-246)GTG>ATG	p.V82M	LOC100128811_uc010qde.1_Intron	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	82	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						GCCCATGGACGTGGCCTCTTA	0.687												
PTCHD3	374308	broad.mit.edu	37	10	27687378	27687378	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:27687378T>C	uc001itu.2	-	4	2267	c.2149A>G	c.(2149-2151)ACT>GCT	p.T717A		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	717					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						TTCATAAAAGTATTCTTCTCA	0.284												
ITGB1	3688	broad.mit.edu	37	10	33200928	33200928	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:33200928C>T	uc001iws.3	-	12	1730	c.1594G>A	c.(1594-1596)GTC>ATC	p.V532I	ITGB1_uc001iwp.3_Missense_Mutation_p.V532I|ITGB1_uc001iwq.3_Missense_Mutation_p.V532I|ITGB1_uc001iwr.3_Missense_Mutation_p.V532I|ITGB1_uc001iwt.3_Missense_Mutation_p.V532I|ITGB1_uc001iwu.1_Missense_Mutation_p.V532I	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	532	Extracellular (Potential).|Cysteine-rich tandem repeats.|II.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TGTCCGCAGACGCACTCTCCA	0.398												
PARD3	56288	broad.mit.edu	37	10	34400290	34400290	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:34400290C>T	uc010qej.1	-	25	3878	c.3878G>A	c.(3877-3879)CGG>CAG	p.R1293Q	PARD3_uc010qek.1_Missense_Mutation_p.R1290Q|PARD3_uc010qel.1_Missense_Mutation_p.R1256Q|PARD3_uc010qem.1_Missense_Mutation_p.R1277Q|PARD3_uc010qen.1_Missense_Mutation_p.R1247Q|PARD3_uc010qeo.1_Missense_Mutation_p.R1210Q|PARD3_uc010qep.1_Missense_Mutation_p.R1203Q|PARD3_uc010qeq.1_Missense_Mutation_p.R1181Q|uc001ixe.1_5'Flank	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	1293	Potential.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				CTGCTCCTTCCGCCTCTGTTC	0.592												
FZD8	8325	broad.mit.edu	37	10	35928906	35928906	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:35928906G>A	uc001iyz.1	-	1	1457	c.1452C>T	c.(1450-1452)TTC>TTT	p.F484F		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	484	Helical; Name=5; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0						GCGCCAGCACGAAGCCGCGCA	0.652												
BMS1	9790	broad.mit.edu	37	10	43325839	43325839	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:43325839C>T	uc001jaj.2	+	22	3945	c.3587C>T	c.(3586-3588)CCG>CTG	p.P1196L		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	1196					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						AGGCGGAGACCGGCCGTCATA	0.517												
CSGALNACT2	55454	broad.mit.edu	37	10	43678785	43678785	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:43678785G>A	uc001jan.2	+	8	1759	c.1424G>A	c.(1423-1425)CGG>CAG	p.R475Q		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	475	Lumenal (Potential).				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1						ATTGTGATTCGGACTCCGGTT	0.478												
RASGEF1A	221002	broad.mit.edu	37	10	43701396	43701396	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:43701396G>T	uc001jap.1	-	2	250	c.169C>A	c.(169-171)CTT>ATT	p.L57I	RASGEF1A_uc001jao.1_Missense_Mutation_p.L65I	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	57	N-terminal Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						GTGGGAACAAGGTGCTCCATC	0.632												
SYT15	83849	broad.mit.edu	37	10	46969272	46969272	+	Silent	SNP	C	C	T	rs145402665	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:46969272C>T	uc001jea.2	-	2	342	c.189G>A	c.(187-189)CCG>CCA	p.P63P	SYT15_uc001jdz.2_Silent_p.P63P|SYT15_uc001jeb.2_Intron|SYT15_uc010qfp.1_5'Flank	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	63	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0						TCCTAGCATGCGGCTGGCAGG	0.617												
RBP3	5949	broad.mit.edu	37	10	48388581	48388581	+	Missense_Mutation	SNP	C	C	A	rs145140816		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:48388581C>A	uc001jez.2	-	1	2411	c.2297G>T	c.(2296-2298)CGG>CTG	p.R766L		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	766	4 X approximate tandem repeats.|3.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	CCATACCAGCCGCACCAGCTG	0.637												
FRMPD2	143162	broad.mit.edu	37	10	49409381	49409381	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:49409381G>A	uc001jgi.2	-	15	1951	c.1844C>T	c.(1843-1845)ACA>ATA	p.T615I	FRMPD2_uc001jgh.2_Missense_Mutation_p.T583I|FRMPD2_uc001jgj.2_Missense_Mutation_p.T593I	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	615	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		TGTGACAAATGTGTGCTTCTT	0.473												
MAPK8	5599	broad.mit.edu	37	10	49635188	49635188	+	Splice_Site	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:49635188T>C	uc009xnz.2	+	10	1284	c.1060_splice	c.e10+2	p.E354_splice	MAPK8_uc001jgl.2_Splice_Site_p.E354_splice|MAPK8_uc001jgm.2_Splice_Site_p.E354_splice|MAPK8_uc001jgo.2_Splice_Site_p.E354_splice|MAPK8_uc009xoa.2_Splice_Site_p.E278_splice|MAPK8_uc001jgn.2_Splice_Site_p.E354_splice|MAPK8_uc010qgk.1_Splice_Site_p.E354_splice|MAPK8_uc001jgp.2_Splice_Site_p.E354_splice|MAPK8_uc001jgq.2_Splice_Site_p.E354_splice	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1						activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AGTGGAAAGGTACATTCGTCA	0.368												
C10orf71	118461	broad.mit.edu	37	10	50530631	50530631	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:50530631A>G	uc010qgp.1	+	3	380	c.41A>G	c.(40-42)GAC>GGC	p.D14G		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	14											0						GCGTTCAGCGACTCCTCCAGC	0.547												
ERCC6	2074	broad.mit.edu	37	10	50680508	50680508	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:50680508C>A	uc001jhs.3	-	16	2992	c.2838G>T	c.(2836-2838)GAG>GAT	p.E946D	ERCC6_uc009xod.2_Missense_Mutation_p.E106D|ERCC6_uc010qgr.1_Missense_Mutation_p.E316D|ERCC6_uc001jhr.3_Missense_Mutation_p.E314D	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	946	Helicase C-terminal.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						TCCATGCTCGCTCCCGGGCCT	0.517								Direct_reversal_of_damage|NER				
PGBD3	267004	broad.mit.edu	37	10	50723502	50723502	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:50723502A>G	uc001jht.2	-	2	1914	c.1659T>C	c.(1657-1659)CAT>CAC	p.H553H	ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Silent_p.H1021H|PGBD3_uc001jhu.2_Silent_p.H1021H	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN	hypothetical protein LOC267004	553										pancreas(1)|breast(1)|skin(1)	3						TGACTATCACATGATTTATGC	0.423												
OGDHL	55753	broad.mit.edu	37	10	50947717	50947717	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:50947717A>G	uc001jie.2	-	17	2451	c.2309T>C	c.(2308-2310)ATG>ACG	p.M770T	OGDHL_uc009xog.2_Missense_Mutation_p.M797T|OGDHL_uc010qgt.1_Missense_Mutation_p.M713T|OGDHL_uc010qgu.1_Missense_Mutation_p.M561T	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	770					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						CATGCCTTCCATGCCATGGGG	0.642												
OGDHL	55753	broad.mit.edu	37	10	50955200	50955200	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:50955200C>T	uc001jie.2	-	9	1184	c.1042G>A	c.(1042-1044)GTC>ATC	p.V348I	OGDHL_uc009xog.2_Missense_Mutation_p.V375I|OGDHL_uc010qgt.1_Missense_Mutation_p.V291I|OGDHL_uc010qgu.1_Missense_Mutation_p.V139I|OGDHL_uc009xoh.2_Missense_Mutation_p.V139I	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	348					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						CGGTTGGTGACGCGGTTGATC	0.582												
MBL2	4153	broad.mit.edu	37	10	54527917	54527917	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:54527917C>T	uc001jjt.2	-	4	792	c.727G>A	c.(727-729)GTC>ATC	p.V243I		NM_000242	NP_000233	P11226	MBL2_HUMAN	soluble mannose-binding lectin precursor	243	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			ovary(1)	1						AACTCACAGACGGCCAGATGG	0.478												
PCDH15	65217	broad.mit.edu	37	10	56138546	56138546	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:56138546C>A	uc001jju.1	-	4	709	c.314G>T	c.(313-315)AGA>ATA	p.R105I	PCDH15_uc010qhq.1_Missense_Mutation_p.R110I|PCDH15_uc010qhr.1_Missense_Mutation_p.R105I|PCDH15_uc010qhs.1_Missense_Mutation_p.R110I|PCDH15_uc010qht.1_Missense_Mutation_p.R105I|PCDH15_uc010qhu.1_Missense_Mutation_p.R105I|PCDH15_uc001jjv.1_Missense_Mutation_p.R83I|PCDH15_uc010qhv.1_Missense_Mutation_p.R105I|PCDH15_uc010qhw.1_Missense_Mutation_p.R105I|PCDH15_uc010qhx.1_Missense_Mutation_p.R105I|PCDH15_uc010qhy.1_Missense_Mutation_p.R110I|PCDH15_uc010qhz.1_Missense_Mutation_p.R105I|PCDH15_uc010qia.1_Missense_Mutation_p.R83I|PCDH15_uc010qib.1_Missense_Mutation_p.R83I|PCDH15_uc001jjw.2_Missense_Mutation_p.R105I	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	105	Cadherin 1.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTAACATCTCTATCCAGAAC	0.308										HNSCC(58;0.16)		
ANK3	288	broad.mit.edu	37	10	61835941	61835941	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:61835941G>A	uc001jky.2	-	37	4890	c.4698C>T	c.(4696-4698)GAC>GAT	p.D1566D	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1566	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GAGATGCCACGTCACTAATGG	0.428												
ANK3	288	broad.mit.edu	37	10	61955986	61955986	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:61955986G>A	uc001jky.2	-	16	1996	c.1804C>T	c.(1804-1806)CTG>TTG	p.L602L	ANK3_uc010qih.1_Silent_p.L585L|ANK3_uc001jkz.3_Silent_p.L596L|ANK3_uc001jlb.1_Silent_p.L131L|ANK3_uc001jlc.1_Silent_p.L263L	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	602	ANK 17.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GCTACATGCAGTGGTGTTAGC	0.458												
ANK3	288	broad.mit.edu	37	10	62039340	62039340	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:62039340G>T	uc001jky.2	-	2	364	c.172C>A	c.(172-174)CTC>ATC	p.L58I	ANK3_uc010qih.1_Missense_Mutation_p.L41I|ANK3_uc001jkz.3_Missense_Mutation_p.L52I|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	58					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						ATGTAGTCGAGGGCCTTTTCA	0.333												
ZNF365	22891	broad.mit.edu	37	10	64148220	64148220	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:64148220G>A	uc001jmc.2	+	3	1124	c.809G>A	c.(808-810)CGG>CAG	p.R270Q	ZNF365_uc001jly.3_Missense_Mutation_p.R285Q|ZNF365_uc001jmb.3_Missense_Mutation_p.R270Q|ZNF365_uc001jlz.3_Missense_Mutation_p.R270Q|ZNF365_uc001jma.3_RNA	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform C	Error:Variant_position_missing_in_Q70YC4_after_alignment										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGAAAGCCCGGCTCCAGGAC	0.498												
HERC4	26091	broad.mit.edu	37	10	69773784	69773784	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:69773784A>G	uc001jng.3	-	9	1379	c.1068T>C	c.(1066-1068)ATT>ATC	p.I356I	HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Silent_p.I356I|HERC4_uc009xpr.2_Silent_p.I356I|HERC4_uc001jni.3_Silent_p.I100I|HERC4_uc001jnj.2_Silent_p.I356I	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	356	RCC1 7.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						AGAACTTACCAATATCTGGTA	0.363												
DNA2	1763	broad.mit.edu	37	10	70178861	70178861	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:70178861A>G	uc001jof.2	-	19	3155	c.3155T>C	c.(3154-3156)GTA>GCA	p.V1052A	DNA2_uc001jog.1_Missense_Mutation_p.V728A|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	966					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						GTATTTGTCTACTGTATTAAC	0.363												
DNA2	1763	broad.mit.edu	37	10	70196956	70196956	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:70196956T>C	uc001jof.2	-	10	1716	c.1716A>G	c.(1714-1716)GAA>GAG	p.E572E	DNA2_uc001jog.1_Silent_p.E486E|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	486					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						TCTTTACATGTTCCATTCTAA	0.353												
DDX50	79009	broad.mit.edu	37	10	70706267	70706267	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:70706267G>A	uc001jou.2	+	15	2202	c.2095G>A	c.(2095-2097)GGC>AGC	p.G699S	DDX50_uc010qjc.1_Intron	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	nucleolar protein GU2	699	Arg-rich.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1						TCGATCTGGCGGCCGGTCAGG	0.522												
KIAA1279	26128	broad.mit.edu	37	10	70748753	70748753	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:70748753G>A	uc001joy.2	+	1	261	c.165G>A	c.(163-165)GAG>GAA	p.E55E		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	KIF1 binding protein	55					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			ovary(1)	1						CTGCGCCTGAGGACGAGGATG	0.677											OREG0020215	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TYSND1	219743	broad.mit.edu	37	10	71902574	71902574	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:71902574C>A	uc001jqr.2	-	3	1487	c.1333G>T	c.(1333-1335)GGC>TGC	p.G445C	TYSND1_uc001jqq.2_RNA|TYSND1_uc001jqs.2_Intron|TYSND1_uc001jqt.2_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1 isoform a	445	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			large_intestine(1)	1						CAAGACTGGCCAAAGACGCCA	0.612												
UNC5B	219699	broad.mit.edu	37	10	73050709	73050709	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:73050709G>A	uc001jro.2	+	9	1582	c.1137G>A	c.(1135-1137)GGG>GGA	p.G379G	UNC5B_uc001jrp.2_Silent_p.G368G	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	379	Helical; (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						TGTATGCGGGGCTCGTGGTGG	0.647												
UNC5B	219699	broad.mit.edu	37	10	73056423	73056423	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:73056423A>G	uc001jro.2	+	15	2859	c.2414A>G	c.(2413-2415)GAG>GGG	p.E805G	UNC5B_uc001jrp.2_Missense_Mutation_p.E794G	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	805	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						GCCTCCACAGAGCTCACCTGC	0.587												
CDH23	64072	broad.mit.edu	37	10	73574991	73574991	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:73574991C>T	uc001jrx.3	+	68	10398	c.10021C>T	c.(10021-10023)CGC>TGC	p.R3341C	CDH23_uc001jsg.3_Missense_Mutation_p.R1101C|CDH23_uc001jsh.3_Missense_Mutation_p.R1066C|CDH23_uc001jsi.3_Missense_Mutation_p.R1066C|CDH23_uc001jsj.3_Missense_Mutation_p.R238C|CDH23_uc010qjr.1_Missense_Mutation_p.R203C	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	3341	Cytoplasmic (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GCACAAACTTCGCGACGTGAT	0.642												
PSAP	5660	broad.mit.edu	37	10	73587902	73587902	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:73587902C>T	uc001jsm.2	-	6	693	c.589G>A	c.(589-591)GTT>ATT	p.V197I		NM_002778	NP_002769	P07602	SAP_HUMAN	prosaposin isoform a preproprotein	197	Saposin B-type 2.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			ovary(1)	1						TCCTGGCAAACGTCCCCATTA	0.493												
NUDT13	25961	broad.mit.edu	37	10	74886458	74886458	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:74886458G>A	uc001jtj.2	+	8	856	c.731G>A	c.(730-732)CGA>CAA	p.R244Q	NUDT13_uc010qkc.1_Missense_Mutation_p.R118Q|NUDT13_uc010qkd.1_Missense_Mutation_p.R47Q|NUDT13_uc009xqw.2_RNA|NUDT13_uc001jtk.2_Missense_Mutation_p.E207K|NUDT13_uc010qke.1_Missense_Mutation_p.R47Q|NUDT13_uc001jtl.2_Intron|uc001jtm.2_5'Flank	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	nudix-type motif 13	244	Nudix hydrolase.						hydrolase activity|metal ion binding				0	Prostate(51;0.0119)					ACCATCCGCCGAGAAGTTGCA	0.507												
MYST4	23522	broad.mit.edu	37	10	76790222	76790222	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:76790222A>G	uc001jwn.1	+	18	6133	c.5640A>G	c.(5638-5640)CCA>CCG	p.P1880P	MYST4_uc001jwo.1_Silent_p.P1588P|MYST4_uc001jwp.1_Silent_p.P1697P	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1880	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					CCATGACCCCACCCCCCAACC	0.537			T	CREBBP	AML							
KCNMA1	3778	broad.mit.edu	37	10	78708947	78708947	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:78708947G>A	uc001jxn.2	-	22	2839	c.2662C>T	c.(2662-2664)CGG>TGG	p.R888W	KCNMA1_uc001jxj.2_Missense_Mutation_p.R834W|KCNMA1_uc001jxk.1_Missense_Mutation_p.R506W|KCNMA1_uc009xrt.1_Missense_Mutation_p.R679W|KCNMA1_uc001jxl.1_Missense_Mutation_p.R513W|KCNMA1_uc001jxo.2_Missense_Mutation_p.R871W|KCNMA1_uc001jxm.2_Missense_Mutation_p.R830W|KCNMA1_uc001jxq.2_Missense_Mutation_p.R833W	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	888	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.A888A(1)		pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCCCATTCCCGCTTGAGGTAC	0.473												
KCNMA1	3778	broad.mit.edu	37	10	78943226	78943226	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:78943226G>A	uc001jxn.2	-	5	938	c.761C>T	c.(760-762)ACG>ATG	p.T254M	KCNMA1_uc001jxj.2_Missense_Mutation_p.T254M|KCNMA1_uc001jxk.1_Translation_Start_Site|KCNMA1_uc009xrt.1_Missense_Mutation_p.T74M|KCNMA1_uc001jxo.2_Missense_Mutation_p.T254M|KCNMA1_uc001jxm.2_Missense_Mutation_p.T254M|KCNMA1_uc001jxq.2_Missense_Mutation_p.T254M	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	254	Helical; Name=Segment S3; (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GGGGGGCACCGTGAAGAAATC	0.448												
DLG5	9231	broad.mit.edu	37	10	79567627	79567627	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:79567627G>A	uc001jzk.2	-	25	4793	c.4723C>T	c.(4723-4725)CGC>TGC	p.R1575C	DLG5_uc001jzi.2_Missense_Mutation_p.R330C|DLG5_uc001jzj.2_Missense_Mutation_p.R990C|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1575	PDZ 4.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACCTTCAGGCGGACGCCATCC	0.602												
DLG5	9231	broad.mit.edu	37	10	79614059	79614059	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:79614059C>T	uc001jzk.2	-	4	676	c.606G>A	c.(604-606)CTG>CTA	p.L202L	DLG5_uc001jzj.2_5'Flank|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	202					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCAGGCTCTGCAGGTCCGACA	0.597												
SFTPD	6441	broad.mit.edu	37	10	81697823	81697823	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:81697823C>T	uc001kbh.2	-	8	956	c.913G>A	c.(913-915)GTA>ATA	p.V305I	MBL1P_uc001kbf.2_Intron	NM_003019	NP_003010	P35247	SFTPD_HUMAN	pulmonary surfactant-associated protein D	305	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			skin(1)	1	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TTCTTAGCTACGACCAGCTGT	0.562												
MAT1A	4143	broad.mit.edu	37	10	82040030	82040030	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:82040030T>G	uc001kbw.2	-	5	703	c.448A>C	c.(448-450)ATG>CTG	p.M150L		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	150					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GTGAGGGGCATGCACTCCTCT	0.627												
NRG3	10718	broad.mit.edu	37	10	83635495	83635495	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:83635495C>A	uc001kco.2	+	1	426	c.399C>A	c.(397-399)TCC>TCA	p.S133S	NRG3_uc010qlz.1_Silent_p.S133S|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	133	Ser/Thr-rich.|Extracellular (Potential).|Poly-Thr.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ctaccacttccaccacgtccc	0.507												
GRID1	2894	broad.mit.edu	37	10	87484202	87484202	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:87484202C>T	uc001kdl.1	-	11	1866	c.1765G>A	c.(1765-1767)GTG>ATG	p.V589M	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.V160M	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	589	Cytoplasmic (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	TGAGCCCTCACAGCCTGTATC	0.552										Multiple Myeloma(13;0.14)		
WAPAL	23063	broad.mit.edu	37	10	88227089	88227089	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:88227089G>A	uc001kdo.2	-	9	2759	c.2317C>T	c.(2317-2319)CGA>TGA	p.R773*	WAPAL_uc009xsv.2_Nonsense_Mutation_p.R87*|WAPAL_uc001kdn.2_Nonsense_Mutation_p.R810*|WAPAL_uc009xsw.2_Nonsense_Mutation_p.R767*	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	773	Potential.|WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						CAGAGCCTTCGGATTTTTTCT	0.358												
MMRN2	79812	broad.mit.edu	37	10	88702972	88702972	+	Silent	SNP	G	G	A	rs141447174		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:88702972G>A	uc001kea.2	-	6	1696	c.1569C>T	c.(1567-1569)GAC>GAT	p.D523D	MMRN2_uc010qmn.1_Silent_p.D166D|MMRN2_uc009xtb.2_Silent_p.D480D	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	523						extracellular space				large_intestine(1)	1						GCCGCCGCTCGTCCAGGCTCA	0.687												
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:89717672C>T	uc001kfb.2	+	8	1728	c.697C>T	c.(697-699)CGA>TGA	p.R233*		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM)	31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
CYP26A1	1592	broad.mit.edu	37	10	94836945	94836945	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:94836945G>A	uc001kil.2	+	7	1423	c.1378G>A	c.(1378-1380)GCC>ACC	p.A460T	CYP26A1_uc001kik.1_Missense_Mutation_p.A391T|CYP26A1_uc001kim.1_Missense_Mutation_p.A358T	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	460					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				AGTGGAGCTGGCCAGGCATTG	0.458												
RBP4	5950	broad.mit.edu	37	10	95353732	95353732	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:95353732C>T	uc001kit.2	-	5	500	c.416G>A	c.(415-417)CGC>CAC	p.R139H		NM_006744	NP_006735	P02753	RET4_HUMAN	retinol-binding protein 4, plasma precursor	139					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding				0		Colorectal(252;0.122)			Vitamin A(DB00162)	GTTCAGGAGGCGGCAGGAGTA	0.577												
C10orf12	26148	broad.mit.edu	37	10	98742990	98742990	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:98742990G>T	uc001kmv.2	+	1	1950	c.1843G>T	c.(1843-1845)GGA>TGA	p.G615*		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	615										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GGAGTTACGAGGAGAGATTTT	0.507												
SLIT1	6585	broad.mit.edu	37	10	98807476	98807476	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:98807476A>G	uc001kmw.2	-	16	1857	c.1605T>C	c.(1603-1605)CCT>CCC	p.P535P	SLIT1_uc009xvh.1_Silent_p.P545P	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	535	LRRNT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGATGCGCTCAGGGATCTTGG	0.637												
RRP12	23223	broad.mit.edu	37	10	99144989	99144989	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:99144989T>G	uc001knf.2	-	10	1281	c.1142A>C	c.(1141-1143)GAG>GCG	p.E381A	RRP12_uc009xvm.2_Missense_Mutation_p.E99A|RRP12_uc010qou.1_Missense_Mutation_p.E320A|RRP12_uc009xvn.2_Missense_Mutation_p.E281A	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	381						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TAAATCATTCTCACTGGGAAC	0.527												
GOLGA7B	401647	broad.mit.edu	37	10	99619287	99619287	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:99619287G>A	uc001kos.2	+	2	150	c.85G>A	c.(85-87)GAT>AAT	p.D29N		NM_001010917	NP_001010917	Q2TAP0	GOG7B_HUMAN	golgi autoantigen, golgin subfamily a, 7B	29						Golgi membrane					0						AGACTACAGCGATGGGACCAT	0.577												
GOLGA7B	401647	broad.mit.edu	37	10	99623791	99623791	+	Silent	SNP	C	C	T	rs138920879	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:99623791C>T	uc001kos.2	+	3	308	c.243C>T	c.(241-243)TGC>TGT	p.C81C		NM_001010917	NP_001010917	Q2TAP0	GOG7B_HUMAN	golgi autoantigen, golgin subfamily a, 7B	81						Golgi membrane					0						GCCTGGCCTGCGCCACGGCCT	0.617												
GOT1	2805	broad.mit.edu	37	10	101163225	101163225	+	Splice_Site	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:101163225C>T	uc001kpr.2	-	7	1167	c.959_splice	c.e7+1	p.W320_splice	GOT1_uc009xwh.2_Splice_Site|GOT1_uc001kpq.1_Splice_Site_p.W33_splice	NM_002079	NP_002070	P17174	AATC_HUMAN	aspartate aminotransferase 1						aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding				0		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GAGCCCCTTACCATTCCTCAA	0.552												
C10orf2	56652	broad.mit.edu	37	10	102748871	102748871	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:102748871C>T	uc001ksf.2	+	1	1579	c.904C>T	c.(904-906)CGG>TGG	p.R302W	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Missense_Mutation_p.R302W|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	302					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGAACAGTTCCGGCGGATTGT	0.577												
C10orf2	56652	broad.mit.edu	37	10	102748967	102748967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:102748967C>T	uc001ksf.2	+	1	1675	c.1000C>T	c.(1000-1002)CGA>TGA	p.R334*	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Nonsense_Mutation_p.R334*|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	334			R -> P (in PEOA3).		cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CTTCTTGGTGCGACCAGGAGA	0.572												
LZTS2	84445	broad.mit.edu	37	10	102766799	102766799	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:102766799C>T	uc001ksj.2	+	5	1953	c.1884C>T	c.(1882-1884)AAC>AAT	p.N628N	LZTS2_uc010qpw.1_Silent_p.N628N|LZTS2_uc001ksk.2_Silent_p.N628N|LZTS2_uc001ksl.2_Silent_p.N628N|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	628	Potential.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).|Sufficient for interaction with CTNNB1.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		ACCGGCGCAACCGGCAGCTAG	0.667												
TLX1	3195	broad.mit.edu	37	10	102893992	102893992	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:102893992G>A	uc001ksw.2	+	2	867	c.629G>A	c.(628-630)CGC>CAC	p.R210H		NM_005521	NP_005512	P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	210	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCCTTCACACGCCTGCAGATC	0.637			T	TRB@|TRD@	T-ALL							
FBXW4	6468	broad.mit.edu	37	10	103371152	103371152	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:103371152A>T	uc001kto.2	-	9	1481	c.1135T>A	c.(1135-1137)TCG>ACG	p.S379T		NM_022039	NP_071322	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	379					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				skin(1)	1		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		AGGGGAGTCGACGTCAGCGGG	0.592												
FBXW4	6468	broad.mit.edu	37	10	103432772	103432772	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:103432772C>T	uc001kto.2	-	4	921	c.575G>A	c.(574-576)AGC>AAC	p.S192N		NM_022039	NP_071322	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	192	WD 1.				ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				skin(1)	1		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		AGTGAAGGTGCTGTGAATCTT	0.488												
GBF1	8729	broad.mit.edu	37	10	104136713	104136713	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:104136713G>A	uc001kux.1	+	33	4547	c.4307G>A	c.(4306-4308)CGT>CAT	p.R1436H	GBF1_uc001kuy.1_Missense_Mutation_p.R1436H|GBF1_uc001kuz.1_Missense_Mutation_p.R1437H	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1436					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CAGGAGAAACGTGGCAAGAGT	0.512												
NFKB2	4791	broad.mit.edu	37	10	104159847	104159847	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:104159847C>A	uc001kvb.2	+	15	1745	c.1480C>A	c.(1480-1482)CTA>ATA	p.L494I	NFKB2_uc001kva.2_Missense_Mutation_p.L494I|NFKB2_uc001kvd.2_Missense_Mutation_p.L494I|NFKB2_uc009xxc.2_Missense_Mutation_p.L494I	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	494	ANK 1.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		ACCACTGCACCTAGCCATCAT	0.607			T	IGH@	B-NHL							
TMEM180	79847	broad.mit.edu	37	10	104231098	104231098	+	Missense_Mutation	SNP	G	G	A	rs149406506	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:104231098G>A	uc001kvt.2	+	6	992	c.773G>A	c.(772-774)CGG>CAG	p.R258Q	TMEM180_uc001kvs.2_Missense_Mutation_p.R107Q|TMEM180_uc010qql.1_5'UTR|TMEM180_uc010qqm.1_Missense_Mutation_p.R107Q|TMEM180_uc001kvu.2_Missense_Mutation_p.R258Q	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	258						integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CGGTATCTCCGGCAGCTGGCA	0.627												
CYP17A1	1586	broad.mit.edu	37	10	104597068	104597068	+	Missense_Mutation	SNP	C	C	A	rs104894141		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:104597068C>A	uc001kwg.2	-	1	223	c.51G>T	c.(49-51)TGG>TGT	p.W17C		NM_000102	NP_000093	P05093	CP17A_HUMAN	cytochrome P450, family 17	17					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	TTCTCTTGGGCCAAAACAAAT	0.587												
COL17A1	1308	broad.mit.edu	37	10	105797491	105797491	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:105797491G>T	uc001kxr.2	-	46	3280	c.3111C>A	c.(3109-3111)CCC>CCA	p.P1037P		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	1037	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTGGGCCTGGGGGACCCTGAA	0.557												
COL17A1	1308	broad.mit.edu	37	10	105836080	105836080	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:105836080C>T	uc001kxr.2	-	5	479	c.310G>A	c.(310-312)GTT>ATT	p.V104I	COL17A1_uc010qqv.1_Missense_Mutation_p.V104I|COL17A1_uc009xxp.1_Missense_Mutation_p.V104I	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	104	Cytoplasmic (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGGCGGGTAACGTGAGTTTTC	0.502												
GPAM	57678	broad.mit.edu	37	10	113918098	113918098	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:113918098C>T	uc009xxy.1	-	18	2154	c.1956G>A	c.(1954-1956)CAG>CAA	p.Q652Q	GPAM_uc001kzp.2_Silent_p.Q652Q|GPAM_uc001kzq.1_Silent_p.Q652Q	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	652	Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).			Q -> R (in Ref. 1; CAD89932).	phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)|skin(1)	2				Epithelial(162;0.0306)|all cancers(201;0.123)		GAATGCCATACTGGATAAACT	0.338												
TCF7L2	6934	broad.mit.edu	37	10	114911586	114911586	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:114911586C>A	uc001lae.3	+	10	1611	c.1104C>A	c.(1102-1104)GTC>GTA	p.V368V	TCF7L2_uc001lac.3_Silent_p.V345V|TCF7L2_uc010qrk.1_Silent_p.V345V|TCF7L2_uc010qrl.1_Silent_p.V345V|TCF7L2_uc010qrm.1_Silent_p.V368V|TCF7L2_uc010qrn.1_Silent_p.V311V|TCF7L2_uc001lad.3_Silent_p.V341V|TCF7L2_uc001lag.3_Silent_p.V392V|TCF7L2_uc001laf.3_Silent_p.V345V|TCF7L2_uc010qro.1_Silent_p.V345V|TCF7L2_uc001lah.2_Silent_p.V350V|TCF7L2_uc010qrp.1_Silent_p.V345V|TCF7L2_uc010qrq.1_Silent_p.V341V|TCF7L2_uc010qrr.1_Silent_p.V283V|TCF7L2_uc010qrs.1_Silent_p.V239V|TCF7L2_uc010qrt.1_Silent_p.V239V|TCF7L2_uc010qru.1_Silent_p.V267V|TCF7L2_uc010qrv.1_Silent_p.V185V|TCF7L2_uc010qrw.1_Silent_p.V72V|TCF7L2_uc010qrx.1_Silent_p.V225V	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	368	Mediates interaction with MAD2L2.|HMG box.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GAGCAAAGGTCGTAGCTGAGT	0.507												
C10orf118	55088	broad.mit.edu	37	10	115887358	115887358	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:115887358T>C	uc001lbb.1	-	14	2907	c.2255A>G	c.(2254-2256)AAC>AGC	p.N752S	C10orf118_uc009xyd.1_Missense_Mutation_p.N350S|C10orf118_uc001lbc.1_Missense_Mutation_p.N752S|C10orf118_uc009xye.1_Intron	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	CTCL tumor antigen L14-2	752										ovary(2)	2		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTGTGGAAAGTTATCCACAGC	0.413												
FAM160B1	57700	broad.mit.edu	37	10	116605175	116605175	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:116605175C>T	uc001lcb.2	+	8	1398	c.1063C>T	c.(1063-1065)CGA>TGA	p.R355*	FAM160B1_uc001lcc.2_Nonsense_Mutation_p.R355*	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	355										lung(1)	1						TCCAGGAAAACGAGCCTTAAT	0.338												
VAX1	11023	broad.mit.edu	37	10	118896162	118896162	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:118896162C>A	uc009xyx.2	-	2	495	c.250G>T	c.(250-252)GGG>TGG	p.G84W	VAX1_uc001ldb.1_Missense_Mutation_p.G84W	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1 isoform a	84						nucleus	sequence-specific DNA binding			ovary(2)	2				all cancers(201;0.0108)		CGGATGGACCCCTTGGCATCT	0.642												
FAM24B	196792	broad.mit.edu	37	10	124608899	124608899	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:124608899C>T	uc001lgt.2	-	4	483	c.149G>A	c.(148-150)TGG>TAG	p.W50*	CUZD1_uc001lgs.2_5'UTR|CUZD1_uc010qtz.1_Intron	NM_152644	NP_689857	Q8N5W8	FA24B_HUMAN	hypothetical protein LOC196792 precursor	50						extracellular region					0		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		CTTGGCCCACCACACCTTGTC	0.478												
HMX2	3167	broad.mit.edu	37	10	124907929	124907929	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:124907929C>T	uc001lhc.1	+	1	292	c.35C>T	c.(34-36)CCG>CTG	p.P12L		NM_005519	NP_005510	A2RU54	HMX2_HUMAN	H6 family homeobox 2	12					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		AAGGGGTGTCCGGCGGCCGGT	0.637												
CHST15	51363	broad.mit.edu	37	10	125780849	125780849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:125780849G>A	uc001lhl.2	-	5	1783	c.1270C>T	c.(1270-1272)CAG>TAG	p.Q424*	CHST15_uc001lhm.2_Nonsense_Mutation_p.Q424*|CHST15_uc001lhn.2_Nonsense_Mutation_p.Q424*|CHST15_uc010que.1_Nonsense_Mutation_p.Q424*|CHST15_uc001lho.2_Nonsense_Mutation_p.Q424*	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	424	Lumenal (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						TCAAACAGCTGCAGTGCTTCT	0.473												
OAT	4942	broad.mit.edu	37	10	126090338	126090338	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:126090338C>G	uc001lhp.2	-	8	1078	c.971G>C	c.(970-972)GGT>GCT	p.G324A	OAT_uc001lhq.2_RNA|OAT_uc001lhr.2_Missense_Mutation_p.G186A	NM_000274	NP_000265	P04181	OAT_HUMAN	ornithine aminotransferase precursor	324					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding				0		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	TGGATTGCCACCGTATGTGGA	0.478												
C10orf137	26098	broad.mit.edu	37	10	127424224	127424224	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:127424224C>T	uc001liq.1	+	13	1802	c.1509C>T	c.(1507-1509)TCC>TCT	p.S503S	C10orf137_uc001lin.2_Silent_p.S469S|C10orf137_uc001lio.1_Silent_p.S469S|C10orf137_uc001lip.1_Silent_p.S207S|C10orf137_uc001lir.2_5'UTR	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTATTGCTTCCGCCAATTACA	0.299												
DHX32	55760	broad.mit.edu	37	10	127541200	127541200	+	Silent	SNP	C	C	T	rs141841599	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:127541200C>T	uc001ljf.1	-	5	1595	c.1104G>A	c.(1102-1104)CCG>CCA	p.P368P	BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_5'UTR|DHX32_uc001ljg.1_Silent_p.P368P|DHX32_uc009yam.1_Silent_p.P123P	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32	368						mitochondrion|nucleus	ATP binding|helicase activity			breast(2)|ovary(1)|lung(1)	4		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTCTTATTCTCGGGTTGTACA	0.478												
FANK1	92565	broad.mit.edu	37	10	127677164	127677164	+	Missense_Mutation	SNP	C	C	T	rs142488342	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:127677164C>T	uc001ljh.3	+	3	340	c.236C>T	c.(235-237)ACG>ATG	p.T79M	FANK1_uc010quk.1_Missense_Mutation_p.T73M|FANK1_uc009yan.2_Missense_Mutation_p.T79M|FANK1_uc001lji.2_Missense_Mutation_p.T73M	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains	79	Fibronectin type-III.					cytoplasm|nucleus				ovary(1)	1		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GAACCAAGGACGCTGTACAGA	0.512												
DOCK1	1793	broad.mit.edu	37	10	128841408	128841408	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:128841408T>C	uc001ljt.2	+	21	2182	c.2118T>C	c.(2116-2118)TTT>TTC	p.F706F	DOCK1_uc010qun.1_Silent_p.F727F	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	706					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGAAACACTTTAGTGCAACGT	0.289												
CLRN3	119467	broad.mit.edu	37	10	129676597	129676597	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:129676597G>A	uc001lka.1	-	3	660	c.497C>T	c.(496-498)CCG>CTG	p.P166L	CLRN3_uc001ljz.1_Missense_Mutation_p.P98L	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	clarin 3	166						integral to membrane				skin(1)	1		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				GGTGGTTGCCGGGTAAAGCAT	0.448												
MGMT	4255	broad.mit.edu	37	10	131334542	131334542	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:131334542G>A	uc001lkh.2	+	2	145	c.119G>A	c.(118-120)CGC>CAC	p.R40H		NM_002412	NP_002403	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	9										ovary(1)|breast(1)	2		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GAAATGAAACGCACCACACTG	0.458								Direct_reversal_of_damage				
EBF3	253738	broad.mit.edu	37	10	131665498	131665498	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:131665498G>C	uc001lki.1	-	10	978	c.919C>G	c.(919-921)CCG>GCG	p.P307A		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	316	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGCCTCGGCGGGGTCTGGACT	0.577												
JAKMIP3	282973	broad.mit.edu	37	10	133930788	133930788	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:133930788C>T	uc001lkx.3	+	2	343	c.343C>T	c.(343-345)CGG>TGG	p.R115W		NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CGAGAACCAGCGGCTGCAGGC	0.612												
NKX6-2	84504	broad.mit.edu	37	10	134598811	134598811	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:134598811C>T	uc001llr.2	-	2	637	c.552G>A	c.(550-552)TCG>TCA	p.S184S		NM_177400	NP_796374	Q9C056	NKX62_HUMAN	NK6 transcription factor related, locus 2	184	Homeobox.					nucleus	sequence-specific DNA binding transcription factor activity				0		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		TCATGCCCAGCGAGTAGGCGA	0.692												
NKX6-2	84504	broad.mit.edu	37	10	134598905	134598905	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:134598905G>T	uc001llr.2	-	2	543	c.458C>A	c.(457-459)CCG>CAG	p.P153Q		NM_177400	NP_796374	Q9C056	NKX62_HUMAN	NK6 transcription factor related, locus 2	153	Homeobox.					nucleus	sequence-specific DNA binding transcription factor activity				0		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		CGAGAAGGTCGGGCGCGAGTG	0.617												
VENTX	27287	broad.mit.edu	37	10	135053249	135053249	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:135053249G>A	uc010quy.1	+	2	322	c.311G>A	c.(310-312)CGC>CAC	p.R104H		NM_014468	NP_055283	O95231	VENTX_HUMAN	VENT homeobox	104	Homeobox.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GAGCAGGTCCGCACCTTGGAG	0.587												
ODF3	113746	broad.mit.edu	37	11	199980	199980	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:199980T>C	uc001lob.2	+	7	1006	c.712T>C	c.(712-714)TTC>CTC	p.F238L	ODF3_uc010qvk.1_Missense_Mutation_p.F191L|ODF3_uc001loc.2_3'UTR	NM_053280	NP_444510	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	238	DUF1309 2.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				ovary(1)	1		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGTTGTCACCTTCGGCATCAA	0.597												
PSMD13	5719	broad.mit.edu	37	11	251578	251578	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:251578A>G	uc001lol.2	+	11	1112	c.870A>G	c.(868-870)CAA>CAG	p.Q290Q	PSMD13_uc010qvr.1_RNA|PSMD13_uc001loo.2_Silent_p.Q292Q|PSMD13_uc001lon.2_Silent_p.Q225Q|PSMD13_uc001lom.2_Silent_p.Q265Q|PSMD13_uc001lop.2_Silent_p.Q73Q	NM_002817	NP_002808	Q9UNM6	PSD13_HUMAN	proteasome 26S non-ATPase subunit 13 isoform 1	290	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			ovary(1)	1		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		ATCACAGACAACTCACTTTTG	0.378												
PHRF1	57661	broad.mit.edu	37	11	607923	607923	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:607923A>G	uc001lqe.2	+	14	2598	c.2467A>G	c.(2467-2469)AAG>GAG	p.K823E	PHRF1_uc010qwc.1_Missense_Mutation_p.K822E|PHRF1_uc010qwd.1_Missense_Mutation_p.K821E|PHRF1_uc010qwe.1_Missense_Mutation_p.K819E|PHRF1_uc009ybz.1_Missense_Mutation_p.K613E|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	823							RNA polymerase binding|zinc ion binding				0						CAAGAAGACGAAGCAGCTGCG	0.657												
SLC25A22	79751	broad.mit.edu	37	11	792206	792206	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:792206G>A	uc001lri.2	-	9	1096	c.754C>T	c.(754-756)CGG>TGG	p.R252W	CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.2_Missense_Mutation_p.R252W|SLC25A22_uc001lrj.2_Missense_Mutation_p.R252W	NM_024698	NP_078974	Q9H936	GHC1_HUMAN	mitochondrial glutamate carrier 1	252	Solcar 3.					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity				0		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	GACTGGAGCCGCGTCTTCACC	0.687												
PNPLA2	57104	broad.mit.edu	37	11	824014	824014	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:824014C>T	uc001lrt.2	+	8	1138	c.936C>T	c.(934-936)TGC>TGT	p.C312C	PNPLA2_uc009ycl.2_Missense_Mutation_p.R124C|EFCAB4A_uc010qwt.1_5'Flank	NM_020376	NP_065109	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	312	Lumenal (Potential).				negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity				0		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGAGGCCTGCGTGGAGCCCA	0.637												
AP2A2	161	broad.mit.edu	37	11	970290	970290	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:970290C>T	uc001lss.2	+	3	439	c.258C>T	c.(256-258)AAC>AAT	p.N86N	AP2A2_uc001lst.1_Silent_p.N86N|AP2A2_uc009yco.1_RNA|AP2A2_uc001lsu.1_5'Flank	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	86					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGAGTTCAAACAGATACACGG	0.527												
MUC6	4588	broad.mit.edu	37	11	1019287	1019287	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1019287T>C	uc001lsw.2	-	30	4069	c.4018A>G	c.(4018-4020)AGC>GGC	p.S1340G		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1340	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCGTGGGGCTTGTCCCTGAT	0.617												
MUC6	4588	broad.mit.edu	37	11	1020720	1020720	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1020720G>A	uc001lsw.2	-	28	3655	c.3604C>T	c.(3604-3606)CCG>TCG	p.P1202S		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1202					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGGCTGCGGCGTGGTGGGC	0.672												
MUC6	4588	broad.mit.edu	37	11	1024088	1024088	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1024088A>T	uc001lsw.2	-	25	3292	c.3241T>A	c.(3241-3243)TAC>AAC	p.Y1081N		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1081					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCTCGTAGTAGGGCAGGTGG	0.657												
MUC6	4588	broad.mit.edu	37	11	1031855	1031855	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1031855A>G	uc001lsw.2	-	3	365	c.314T>C	c.(313-315)GTC>GCC	p.V105A		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	105	VWFD 1.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACAGTGACGACGGAGGCCCC	0.542												
MUC2	4583	broad.mit.edu	37	11	1087532	1087532	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1087532G>A	uc001lsx.1	+	24	3310	c.3283G>A	c.(3283-3285)GTG>ATG	p.V1095M		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	1095						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGCTCTGCCGTGGCCTCCTA	0.647												
MUC5B	727897	broad.mit.edu	37	11	1158955	1158955	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1158955C>T	uc009ycr.1	+	11	1259	c.1133C>T	c.(1132-1134)ACG>ATG	p.T378M		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	369	TIL 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTGCAGGGACGGTGCTTGAC	0.667												
MUC5B	727897	broad.mit.edu	37	11	1253994	1253994	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1253994G>A	uc009ycr.1	+	33	4162	c.4036G>A	c.(4036-4038)GTC>ATC	p.V1346I	MUC5B_uc009yct.1_Missense_Mutation_p.V687I|MUC5B_uc001ltb.2_Missense_Mutation_p.V690I|MUC5B_uc001lta.2_Missense_Mutation_p.V355I	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	687					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAGGGACGGCGTCTGCAGTGA	0.692												
MUC5B	727897	broad.mit.edu	37	11	1257653	1257653	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1257653C>T	uc009ycr.1	+	40	5123	c.4997C>T	c.(4996-4998)GCG>GTG	p.A1666V	MUC5B_uc009yct.1_Missense_Mutation_p.A973V|MUC5B_uc001ltb.2_Missense_Mutation_p.A976V|MUC5B_uc001lta.2_Missense_Mutation_p.A641V	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	973	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCTTTAAGGCGGTGGCGAGA	0.667												
MUC5B	727897	broad.mit.edu	37	11	1265962	1265962	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1265962G>A	uc009ycr.1	+	48	9892	c.9766G>A	c.(9766-9768)GCC>ACC	p.A3256T	MUC5B_uc001ltb.2_Missense_Mutation_p.A2621T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2618	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGCTTCACAGCCACCCCCTC	0.647												
TOLLIP	54472	broad.mit.edu	37	11	1311503	1311503	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1311503G>A	uc001lte.2	-	3	431	c.320C>T	c.(319-321)ACG>ATG	p.T107M	TOLLIP_uc001ltd.2_Missense_Mutation_p.T38M|TOLLIP_uc009ycu.2_Intron|TOLLIP_uc001ltf.2_Missense_Mutation_p.T57M	NM_019009	NP_061882	Q9H0E2	TOLIP_HUMAN	toll interacting protein	107	C2.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding				0		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		TGGGGGCACCGTGCAGTGGAT	0.617												
TNNT3	7140	broad.mit.edu	37	11	1955032	1955032	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:1955032G>A	uc001luu.3	+	10	465	c.253G>A	c.(253-255)GAG>AAG	p.E85K	TNNT3_uc001lun.2_Intron|TNNT3_uc001luw.3_Missense_Mutation_p.E77K|TNNT3_uc001luo.3_Missense_Mutation_p.E77K|TNNT3_uc001lup.3_Missense_Mutation_p.E83K|TNNT3_uc001luq.3_Missense_Mutation_p.E77K|TNNT3_uc001lur.2_Missense_Mutation_p.E77K|TNNT3_uc010qxf.1_Missense_Mutation_p.E83K|TNNT3_uc010qxg.1_Missense_Mutation_p.E17K	NM_006757	NP_006748	P45378	TNNT3_HUMAN	troponin T3, skeletal, fast isoform 1	96					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			ovary(1)	1		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		CCGGAAGAAGGAGGAGGAGGA	0.607												
CARS	833	broad.mit.edu	37	11	3040468	3040468	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:3040468C>A	uc001lxh.2	-	11	1121	c.1047G>T	c.(1045-1047)TCG>TCT	p.S349S	CARS_uc001lxe.2_Silent_p.S339S|CARS_uc001lxf.2_Silent_p.S432S|CARS_uc001lxg.2_Silent_p.S349S|CARS_uc010qxo.1_Silent_p.S432S|CARS_uc010qxp.1_Silent_p.S362S	NM_001751	NP_001742	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase isoform b	349					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding		CARS/ALK(5)	soft_tissue(5)|ovary(2)	7		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTGCCATGGCCGAGCACTCGA	0.602			T	ALK	ALCL							
CHRNA10	57053	broad.mit.edu	37	11	3687434	3687434	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:3687434C>A	uc001lyf.2	-	5	1328	c.1256G>T	c.(1255-1257)TGG>TTG	p.W419L	CHRNA10_uc010qxt.1_Missense_Mutation_p.W213L|CHRNA10_uc010qxu.1_Missense_Mutation_p.W213L	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10	419	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			ovary(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	CAGGCGCTTCCAGTCCTCATG	0.637												
CHRNA10	57053	broad.mit.edu	37	11	3691097	3691097	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:3691097T>C	uc001lyf.2	-	2	208	c.136A>G	c.(136-138)AGA>GGA	p.R46G	CHRNA10_uc010qxt.1_5'UTR|CHRNA10_uc010qxu.1_5'UTR	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10	46	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			ovary(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GCCACAGGTCTCAGGGCACTT	0.577												
NUP98	4928	broad.mit.edu	37	11	3744675	3744675	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:3744675G>T	uc001lyh.2	-	16	2149	c.1858C>A	c.(1858-1860)CTA>ATA	p.L620I	NUP98_uc001lyi.2_Missense_Mutation_p.L620I|NUP98_uc001lyj.1_Missense_Mutation_p.L620I|NUP98_uc001lyk.1_Missense_Mutation_p.L637I	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	637					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GGTTTGCTTAGGAAACTAAAT	0.294			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML							
PGAP2	27315	broad.mit.edu	37	11	3838582	3838582	+	Splice_Site	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:3838582G>T	uc001lys.2	+	3	292	c.166_splice	c.e3-1	p.A56_splice	PGAP2_uc001lyl.2_Intron|PGAP2_uc010qxw.1_Splice_Site_p.A113_splice|PGAP2_uc010qxx.1_Intron|PGAP2_uc001lyp.3_Intron|PGAP2_uc010qxy.1_Intron|PGAP2_uc010qxz.1_Intron|PGAP2_uc001lyn.3_Intron|PGAP2_uc010qya.1_Intron|PGAP2_uc001lyr.2_Intron|PGAP2_uc010qyb.1_Intron|PGAP2_uc001lyt.2_Intron	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1						GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						GTGCTGCTTAGGCCACGCCCT	0.592												
PGAP2	27315	broad.mit.edu	37	11	3846609	3846609	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:3846609C>T	uc001lys.2	+	7	995	c.869C>T	c.(868-870)GCG>GTG	p.A290V	PGAP2_uc001lyl.2_Missense_Mutation_p.A247V|PGAP2_uc010qxw.1_Missense_Mutation_p.A347V|PGAP2_uc010qxx.1_3'UTR|PGAP2_uc001lyp.3_3'UTR|PGAP2_uc010qxy.1_Missense_Mutation_p.A282V|PGAP2_uc010qxz.1_Missense_Mutation_p.A286V|PGAP2_uc001lyn.3_3'UTR|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_3'UTR|PGAP2_uc010qyb.1_3'UTR|PGAP2_uc001lyt.2_Missense_Mutation_p.A73V	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	290	Helical; (Potential).				GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						ACCAACATGGCGTTCCACATG	0.522											OREG0020703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OR51M1	390059	broad.mit.edu	37	11	5411436	5411436	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:5411436C>A	uc010qzc.1	+	1	808	c.808C>A	c.(808-810)CTG>ATG	p.L270M	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M,	270						integral to membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGATGGGGCTGTCCCTGGT	0.542												
UBQLNL	143630	broad.mit.edu	37	11	5537100	5537100	+	Missense_Mutation	SNP	A	A	G	rs143166303	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:5537100A>G	uc001maz.3	-	1	857	c.572T>C	c.(571-573)ATG>ACG	p.M191T	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	191										large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GAACTGCCACATGAACTCCAT	0.468												
FAM160A2	84067	broad.mit.edu	37	11	6245178	6245178	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:6245178G>A	uc001mcl.3	-	3	798	c.439C>T	c.(439-441)CGG>TGG	p.R147W	FAM160A2_uc001mck.3_Missense_Mutation_p.R147W|FAM160A2_uc001mcm.2_Missense_Mutation_p.R147W	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	147					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						GGACCATGCCGCAACAGTGGC	0.592												
PRKCDBP	112464	broad.mit.edu	37	11	6340490	6340490	+	Missense_Mutation	SNP	G	G	T	rs150739333		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:6340490G>T	uc001mcu.1	-	2	723	c.689C>A	c.(688-690)CCC>CAC	p.P230H		NM_145040	NP_659477	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	230											0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCCAGCGTGGGCTCCAGCGC	0.697												
DCHS1	8642	broad.mit.edu	37	11	6648096	6648096	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:6648096C>T	uc001mem.1	-	14	6584	c.6174G>A	c.(6172-6174)CTG>CTA	p.L2058L		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2058	Cadherin 19.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCCCCCTGCAGTCCAACAA	0.607												
OR2D2	120776	broad.mit.edu	37	11	6913347	6913347	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:6913347G>A	uc010rau.1	-	1	385	c.385C>T	c.(385-387)CCT>TCT	p.P129S		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TAACGCAGAGGATTGCAGATT	0.498												
OR10A6	390093	broad.mit.edu	37	11	7949288	7949288	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:7949288G>A	uc010rbh.1	-	1	922	c.922C>T	c.(922-924)CGA>TGA	p.R308*		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAACCACTCGCCTTCGCCAT	0.368												
ST5	6764	broad.mit.edu	37	11	8751578	8751578	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:8751578G>T	uc001mgt.2	-	3	1445	c.1259C>A	c.(1258-1260)CCT>CAT	p.P420H	ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Missense_Mutation_p.P420H|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Missense_Mutation_p.P420H	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	420	Pro-rich.|Interaction with ABL1.				positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGGCAAGGGAGGTGGAGCAGC	0.607												
SCUBE2	57758	broad.mit.edu	37	11	9111333	9111333	+	Silent	SNP	G	G	A	rs143387393		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:9111333G>A	uc001mhh.1	-	2	257	c.177C>T	c.(175-177)GAC>GAT	p.D59D	SCUBE2_uc001mhi.1_Silent_p.D59D|SCUBE2_uc001mhj.1_Silent_p.D59D	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	59	EGF-like 1; calcium-binding (Potential).					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GACACAGGGCGTCGGCATGGC	0.557												
GALNTL4	374378	broad.mit.edu	37	11	11314737	11314737	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:11314737C>T	uc001mjo.2	-	10	1937	c.1516G>A	c.(1516-1518)GTG>ATG	p.V506M		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	506	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GTGTAGTACACGTTCTGGGGG	0.597												
PDE3B	5140	broad.mit.edu	37	11	14666165	14666165	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:14666165G>T	uc001mln.2	+	1	897	c.544G>T	c.(544-546)GGG>TGG	p.G182W	PDE3B_uc001mlm.2_Missense_Mutation_p.G182W|PDE3B_uc010rcr.1_Missense_Mutation_p.G182W|PSMA1_uc001mll.2_5'Flank	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	182					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						TGGCGACGCAGGGTCCGCGGC	0.726												
PDE3B	5140	broad.mit.edu	37	11	14666522	14666522	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:14666522G>A	uc001mln.2	+	1	1254	c.901G>A	c.(901-903)GGA>AGA	p.G301R	PDE3B_uc001mlm.2_Missense_Mutation_p.G301R|PDE3B_uc010rcr.1_Missense_Mutation_p.G301R|PSMA1_uc001mll.2_5'Flank	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	301					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						CGTGTCGTTAGGAGAAACTGC	0.527												
INSC	387755	broad.mit.edu	37	11	15260573	15260573	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:15260573G>A	uc001mly.2	+	11	1533	c.1487G>A	c.(1486-1488)CGT>CAT	p.R496H	INSC_uc001mlz.2_Missense_Mutation_p.R449H|INSC_uc001mma.2_Missense_Mutation_p.R449H|INSC_uc010rcs.1_Missense_Mutation_p.R484H|INSC_uc001mmb.2_Missense_Mutation_p.R449H|INSC_uc001mmc.2_Missense_Mutation_p.R407H	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	496					cell differentiation|nervous system development	cytoplasm	binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						ACCCTGGCTCGTCTCAGCCGA	0.607												
PIK3C2A	5286	broad.mit.edu	37	11	17158165	17158165	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:17158165T>G	uc001mmq.3	-	8	1778	c.1712A>C	c.(1711-1713)CAC>CCC	p.H571P	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.H191P|PIK3C2A_uc001mmr.3_Intron|PIK3C2A_uc010rcx.1_Missense_Mutation_p.H571P	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	571					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	TACTGCTCGGTGTTGGTTCtt	0.328												
KCNC1	3746	broad.mit.edu	37	11	17758117	17758117	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:17758117C>T	uc001mnk.3	+	1	623	c.568C>T	c.(568-570)CGG>TGG	p.R190W	KCNC1_uc009yhc.1_Missense_Mutation_p.R190W	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	190	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						CCGCTACGCGCGGGTAAGTGA	0.692												
SAAL1	113174	broad.mit.edu	37	11	18103046	18103046	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:18103046G>A	uc001mnq.2	-	11	1294	c.1244C>T	c.(1243-1245)ACG>ATG	p.T415M	SAAL1_uc001mnr.2_Missense_Mutation_p.T414M|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Missense_Mutation_p.T417M	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	415					acute-phase response	extracellular region	binding				0						CTGAGCCACCGTCTCCTAAAA	0.388												
LUZP2	338645	broad.mit.edu	37	11	24750763	24750763	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:24750763G>A	uc001mqs.2	+	2	345	c.111G>A	c.(109-111)GAG>GAA	p.E37E	LUZP2_uc009yif.2_5'UTR|LUZP2_uc009yig.2_Silent_p.E37E	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	37	Potential.					extracellular region				ovary(1)|skin(1)	2						TCTTTAAGGAGCGAAGCACCA	0.433												
MUC15	143662	broad.mit.edu	37	11	26587274	26587274	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:26587274A>T	uc001mqx.2	-	2	398	c.132T>A	c.(130-132)AAT>AAA	p.N44K	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.N71K|MUC15_uc001mqy.2_Missense_Mutation_p.N71K	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	44	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						AAATAGGTTTATTTTCCATTG	0.348												
LIN7C	55327	broad.mit.edu	37	11	27523455	27523455	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:27523455G>A	uc001mrl.2	-	2	77	c.50C>T	c.(49-51)GCA>GTA	p.A17V	LIN7C_uc009yii.2_Missense_Mutation_p.A17V	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C	17	L27.				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction					0						TAATTCAATTGCTCTACAAAT	0.388												
BDNF	627	broad.mit.edu	37	11	27679877	27679877	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:27679877G>A	uc010rdu.1	-	2	1086	c.235C>T	c.(235-237)CCC>TCC	p.P79S	BDNFOS_uc001mrm.2_RNA|BDNFOS_uc009yij.2_RNA|BDNFOS_uc009yik.2_RNA|BDNFOS_uc009yil.2_RNA|BDNFOS_uc001mrp.2_RNA|BDNFOS_uc009yim.2_RNA|BDNFOS_uc009yin.2_RNA|BDNFOS_uc009yio.2_RNA|BDNFOS_uc009yip.2_RNA|BDNFOS_uc001mrn.2_RNA|BDNFOS_uc009yiq.2_RNA|BDNFOS_uc001mro.2_RNA|BDNFOS_uc009yir.2_RNA|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_RNA|BDNFOS_uc009yiu.2_RNA|BDNFOS_uc009yiv.2_RNA|BDNFOS_uc009yiw.2_RNA|BDNFOS_uc009yix.2_RNA|BDNFOS_uc009yiy.2_RNA|BDNFOS_uc009yiz.2_RNA|BDNFOS_uc001mrq.3_RNA|BDNFOS_uc001mrr.3_RNA|BDNFOS_uc009yja.2_RNA|BDNFOS_uc009yjb.2_RNA|BDNF_uc010rdv.1_Missense_Mutation_p.P79S|BDNF_uc001mrt.2_Missense_Mutation_p.P94S|BDNF_uc010rdw.1_Missense_Mutation_p.P79S|BDNF_uc009yjd.2_Missense_Mutation_p.P79S|BDNF_uc001mru.2_Missense_Mutation_p.P79S|BDNF_uc010rdx.1_Missense_Mutation_p.P79S|BDNF_uc010rdy.1_Missense_Mutation_p.P79S|BDNF_uc009yjg.2_Missense_Mutation_p.P79S|BDNF_uc009yje.2_Missense_Mutation_p.P161S|BDNF_uc009yjf.2_Missense_Mutation_p.P108S|BDNF_uc001mrv.2_Missense_Mutation_p.P79S|BDNF_uc001mrw.3_Missense_Mutation_p.P79S|BDNF_uc001mrx.2_Missense_Mutation_p.P79S|BDNF_uc001mry.3_Missense_Mutation_p.P79S|BDNF_uc001mrz.3_Missense_Mutation_p.P79S|BDNF_uc001msa.2_Missense_Mutation_p.P87S	NM_001143816	NP_001137288	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform a	79						extracellular region	growth factor activity				0						TCTTCATTGGGCCGAACTTTC	0.502												
EIF3M	10480	broad.mit.edu	37	11	32623875	32623875	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:32623875A>G	uc001mtu.2	+	11	1098	c.1055A>G	c.(1054-1056)GAC>GGC	p.D352G	CCDC73_uc001mtv.2_3'UTR|EIF3M_uc010ref.1_Missense_Mutation_p.D220G	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3,	352	Interaction with HSV-1 and HSV-2.					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)|breast(1)|skin(1)	3	Breast(20;0.109)					CAACTGTATGACACACTTAAT	0.348												
QSER1	79832	broad.mit.edu	37	11	32956107	32956107	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:32956107A>G	uc001mty.2	+	4	3183	c.2916A>G	c.(2914-2916)CAA>CAG	p.Q972Q	QSER1_uc001mtz.1_Silent_p.Q733Q|QSER1_uc001mua.2_Silent_p.Q477Q	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	972										ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					TCCAGGAGCAAAGTTCTGGCC	0.393												
CSTF3	1479	broad.mit.edu	37	11	33108546	33108546	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:33108546G>A	uc001muh.2	-	18	1949	c.1783C>T	c.(1783-1785)CGA>TGA	p.R595*	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	cleavage stimulation factor subunit 3 isoform 1	595	Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding				0						GCTAAATGTCGTGGCTGAAAT	0.428												
C11orf41	25758	broad.mit.edu	37	11	33640107	33640107	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:33640107A>G	uc001mup.3	+	15	4559	c.4435A>G	c.(4435-4437)AGC>GGC	p.S1479G		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1473						integral to membrane				ovary(2)	2						TGTCTACAGAAGCCGGCAGTC	0.522												
TTC17	55761	broad.mit.edu	37	11	43428962	43428962	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:43428962A>G	uc001mxi.2	+	15	1913	c.1899A>G	c.(1897-1899)GGA>GGG	p.G633G	TTC17_uc001mxh.2_Silent_p.G633G|TTC17_uc010rfj.1_Silent_p.G576G|TTC17_uc001mxj.2_Silent_p.G403G	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	633	TPR 2.						binding			ovary(5)	5						GAGCAGTAGGAAATAGCACTT	0.403												
HSD17B12	51144	broad.mit.edu	37	11	43876274	43876274	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:43876274C>T	uc001mxq.3	+	10	929	c.694C>T	c.(694-696)CCA>TCA	p.P232S		NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	232					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity				0						GAGTGTCCTGCCATACTTCGT	0.468												
SLC35C1	55343	broad.mit.edu	37	11	45832837	45832837	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:45832837C>T	uc001nbp.2	+	2	1758	c.1046C>T	c.(1045-1047)CCG>CTG	p.P349L	SLC35C1_uc001nbo.2_Missense_Mutation_p.P336L|SLC35C1_uc010rgm.1_Missense_Mutation_p.P336L	NM_018389	NP_060859	Q96A29	FUCT1_HUMAN	GDP-fucose transporter 1 isoform a	349						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity				0				GBM - Glioblastoma multiforme(35;0.227)		AAGAAGACTCCGGAGGAGCCC	0.667												
CRY2	1408	broad.mit.edu	37	11	45891725	45891725	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:45891725G>A	uc010rgn.1	+	8	1401	c.1379G>A	c.(1378-1380)CGT>CAT	p.R460H	CRY2_uc009ykw.2_Missense_Mutation_p.R378H|CRY2_uc010rgo.1_Missense_Mutation_p.R182H	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like) isoform 1	439	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			central_nervous_system(1)	1						GGCTTTGGCCGTCGCACGGAC	0.592												
AMBRA1	55626	broad.mit.edu	37	11	46567255	46567255	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:46567255C>T	uc010rgu.1	-	5	810	c.450G>A	c.(448-450)CAG>CAA	p.Q150Q	AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Silent_p.Q150Q|AMBRA1_uc001ncu.1_Silent_p.Q150Q|AMBRA1_uc001ncv.2_Silent_p.Q150Q|AMBRA1_uc001ncw.2_Silent_p.Q150Q|AMBRA1_uc001ncx.2_Silent_p.Q150Q	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	150	WD 3.				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TCAGCAGGAGCTGAGCCGTAG	0.532												
ARFGAP2	84364	broad.mit.edu	37	11	47196629	47196629	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:47196629A>G	uc001ndt.2	-	5	432	c.417T>C	c.(415-417)AGT>AGC	p.S139S	ARFGAP2_uc010rha.1_5'Flank|ARFGAP2_uc010rhb.1_Intron|ARFGAP2_uc001ndu.2_Intron|ARFGAP2_uc010rhc.1_Intron|ARFGAP2_uc010rhd.1_Silent_p.S139S|ARFGAP2_uc001ndv.1_3'UTR	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating	139	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			ovary(1)	1						GAACGGCACTACTCATGTTGT	0.493												
MADD	8567	broad.mit.edu	37	11	47317472	47317472	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:47317472C>A	uc001ner.1	+	24	3816	c.3625C>A	c.(3625-3627)CTT>ATT	p.L1209I	MADD_uc001neq.2_Missense_Mutation_p.L1171I|MADD_uc001nev.1_Missense_Mutation_p.L1128I|MADD_uc001nes.1_Missense_Mutation_p.L1148I|MADD_uc001net.1_Missense_Mutation_p.L1191I|MADD_uc009yln.1_Missense_Mutation_p.L1124I|MADD_uc001neu.1_Missense_Mutation_p.L1128I|MADD_uc001nex.2_Missense_Mutation_p.L1209I|MADD_uc001nez.2_Missense_Mutation_p.L1127I|MADD_uc001new.2_Missense_Mutation_p.L1170I|MADD_uc009ylo.2_Missense_Mutation_p.L123I	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	1209	Ser-rich.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		TGGAGAGACCCTTGGAGCTGA	0.537												
PTPMT1	114971	broad.mit.edu	37	11	47593160	47593160	+	Silent	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:47593160T>G	uc001nfs.3	+	4	778	c.585T>G	c.(583-585)ACT>ACG	p.T195T	PTPMT1_uc001nfv.3_3'UTR|PTPMT1_uc009ylt.2_Silent_p.T131T|PTPMT1_uc001nfu.3_3'UTR|NDUFS3_uc001nft.3_5'UTR	NM_175732	NP_783859	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	195					inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(1)	1						AGGATGGGACTTTTGTCATTT	0.453												
FNBP4	23360	broad.mit.edu	37	11	47776158	47776158	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:47776158G>A	uc009ylv.2	-	3	525	c.372C>T	c.(370-372)TCC>TCT	p.S124S	FNBP4_uc001ngj.2_Silent_p.S31S|FNBP4_uc001ngl.2_Intron	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	124										ovary(1)	1						CTAGTTTTTCGGAAACATCAT	0.403												
PTPRJ	5795	broad.mit.edu	37	11	48188902	48188902	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:48188902T>C	uc001ngp.3	+	25	4357	c.4002T>C	c.(4000-4002)GGT>GGC	p.G1334G		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1334	Cytoplasmic (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						AGACCAATGGTTACATCGCCT	0.453												
OR4C12	283093	broad.mit.edu	37	11	50003277	50003277	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:50003277A>G	uc010ria.1	-	1	761	c.761T>C	c.(760-762)TTT>TCT	p.F254S		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	254	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						CAGATACACAAATATACAGGG	0.423												
OR5D14	219436	broad.mit.edu	37	11	55563737	55563737	+	Missense_Mutation	SNP	C	C	T	rs145440752	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:55563737C>T	uc010rim.1	+	1	706	c.706C>T	c.(706-708)CGC>TGC	p.R236C		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	236	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				TGTTAGTGGGCGCCACAAAGC	0.463												
OR5AS1	219447	broad.mit.edu	37	11	55798109	55798109	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:55798109G>A	uc010riw.1	+	1	215	c.215G>A	c.(214-216)AGC>AAC	p.S72N		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)					TTAGACATCAGCTGTTCTACA	0.353												
OR8J3	81168	broad.mit.edu	37	11	55905191	55905191	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:55905191C>A	uc010riz.1	-	1	4	c.4G>T	c.(4-6)GCT>TCT	p.A2S		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	2	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					TTTTCAGGAGCCATGTCAGAG	0.428												
OR8H1	219469	broad.mit.edu	37	11	56057608	56057608	+	Silent	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:56057608T>G	uc010rje.1	-	1	931	c.931A>C	c.(931-933)AGG>CGG	p.R311R		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	311	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					TTTAATTACCTGGAGTCCTGT	0.338												
OR8H1	219469	broad.mit.edu	37	11	56057978	56057978	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:56057978G>T	uc010rje.1	-	1	561	c.561C>A	c.(559-561)TCC>TCA	p.S187S		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					TGTCCATGCAGGACAGAGCTA	0.433												
OR8J1	219477	broad.mit.edu	37	11	56128498	56128498	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:56128498A>G	uc010rjh.1	+	1	776	c.776A>G	c.(775-777)TAT>TGT	p.Y259C		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					CTATTCATGTATGTGCAGCCC	0.388												
OR5M8	219484	broad.mit.edu	37	11	56258674	56258674	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:56258674A>G	uc001nix.1	-	1	173	c.173T>C	c.(172-174)ATG>ACG	p.M58T		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					GAAAAAGTACATGGGCATGTG	0.493												
PRG3	10394	broad.mit.edu	37	11	57147109	57147109	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:57147109G>A	uc001njv.1	-	3	343	c.233C>T	c.(232-234)GCC>GTC	p.A78V		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3 precursor	78					basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding				0						CGACTCCATGGCTTCCTCATC	0.557												
RTN4RL2	349667	broad.mit.edu	37	11	57235267	57235267	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:57235267C>T	uc010rjt.1	+	2	217	c.217C>T	c.(217-219)CGC>TGC	p.R73C		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2 precursor	73	LRR 1.				axon regeneration	anchored to plasma membrane	receptor activity				0						CAACCTCATCCGCACGCTGCG	0.622												
FAM111B	374393	broad.mit.edu	37	11	58892109	58892109	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:58892109A>G	uc001nnl.2	+	4	782	c.539A>G	c.(538-540)AAC>AGC	p.N180S	FAM111B_uc001nnm.2_Missense_Mutation_p.N150S|FAM111B_uc010rko.1_Missense_Mutation_p.N150S	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	180							catalytic activity			ovary(2)	2						GAAAATCCAAACATGGAATGC	0.338												
FAM111A	63901	broad.mit.edu	37	11	58919526	58919526	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:58919526C>T	uc010rkp.1	+	5	612	c.385C>T	c.(385-387)CGT>TGT	p.R129C	FAM111A_uc010rkq.1_Missense_Mutation_p.R129C|FAM111A_uc010rkr.1_Missense_Mutation_p.R129C|FAM111A_uc001nno.2_Missense_Mutation_p.R129C|FAM111A_uc001nnp.2_Missense_Mutation_p.R129C|FAM111A_uc001nnq.2_Missense_Mutation_p.R129C	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	129					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)				AATGCTTGTGCGTGGCACAGA	0.443												
OSBP	5007	broad.mit.edu	37	11	59361175	59361175	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:59361175G>A	uc001noc.1	-	9	2060	c.1580C>T	c.(1579-1581)GCT>GTT	p.A527V	OSBP_uc009ymr.1_Intron	NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	527					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		ATGGTGCGCAGCAGCAGGGGG	0.458												
MS4A14	84689	broad.mit.edu	37	11	60183217	60183217	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:60183217C>A	uc001npj.2	+	5	1341	c.776C>A	c.(775-777)CCC>CAC	p.P259H	MS4A14_uc001npi.2_Missense_Mutation_p.P147H|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.P242H|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	259						integral to membrane	receptor activity			breast(1)	1						GAGAAAAAGCCCTCAGAAAAT	0.373												
PRPF19	27339	broad.mit.edu	37	11	60670961	60670961	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:60670961C>T	uc001nqf.2	-	3	423	c.216G>A	c.(214-216)CCG>CCA	p.P72P		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	PRP19/PSO4 pre-mRNA processing factor 19	72					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			ovary(1)	1						TCAGAATGGCCGGGATGCTGG	0.562												
VWCE	220001	broad.mit.edu	37	11	61048617	61048617	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:61048617C>A	uc001nra.2	-	8	1157	c.878G>T	c.(877-879)CGG>CTG	p.R293L	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	293						extracellular region	calcium ion binding			ovary(1)	1						CAGGGCAGGCCGGCCGGCCTC	0.662												
DDB1	1642	broad.mit.edu	37	11	61070548	61070548	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:61070548G>A	uc001nrc.3	-	23	3138	c.2912C>T	c.(2911-2913)GCC>GTC	p.A971V	DDB1_uc010rle.1_Missense_Mutation_p.A282V|DDB1_uc010rlf.1_Missense_Mutation_p.A971V	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	971	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						CAAGTTAAAGGCATTTTCAGC	0.473								NER				
TMEM138	51524	broad.mit.edu	37	11	61133581	61133581	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:61133581G>A	uc001nrl.1	+	3	369	c.193G>A	c.(193-195)GTC>ATC	p.V65I	TMEM138_uc010rli.1_Missense_Mutation_p.V65I|TMEM138_uc001nrm.2_Missense_Mutation_p.V65I	NM_016464	NP_057548	Q9NPI0	TM138_HUMAN	transmembrane protein 138	65						integral to membrane					0						CAACACCTTCGTCTTCCAGGC	0.453												
INCENP	3619	broad.mit.edu	37	11	61908981	61908981	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:61908981G>A	uc001nsw.1	+	11	1805	c.1603G>A	c.(1603-1605)GTC>ATC	p.V535I	INCENP_uc009ynw.1_Missense_Mutation_p.V535I|INCENP_uc001nsx.1_Intron	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	535	Potential.				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						GTGCAGCTTCGTCGTAAGTAA	0.592												
AHNAK	79026	broad.mit.edu	37	11	62298496	62298496	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:62298496C>T	uc001ntl.2	-	5	3693	c.3393G>A	c.(3391-3393)ATG>ATA	p.M1131I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1131					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TGAACTTGGGCATTTTCATCT	0.522												
TUT1	64852	broad.mit.edu	37	11	62348927	62348927	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:62348927C>T	uc001nto.2	-	3	672	c.634G>A	c.(634-636)GAG>AAG	p.E212K		NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	174					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2						CGCTCGGCCTCGGACAACTCC	0.607												
INTS5	80789	broad.mit.edu	37	11	62415761	62415761	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:62415761C>T	uc001nud.2	-	2	1844	c.1791G>A	c.(1789-1791)GCG>GCA	p.A597A	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	597					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						CCCCAAAGTGCGCCCCTAGGG	0.622												
UBXN1	51035	broad.mit.edu	37	11	62445429	62445429	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:62445429C>T	uc001nul.1	-	5	584	c.452G>A	c.(451-453)CGG>CAG	p.R151Q	UBXN1_uc001nuj.2_Missense_Mutation_p.R151Q|UBXN1_uc001num.1_Missense_Mutation_p.R151Q|UBXN1_uc001nuk.2_Missense_Mutation_p.R116Q|UBXN1_uc010rme.1_Missense_Mutation_p.R151Q|UBXN1_uc010rmf.1_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	151	Potential.|Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding				0						CTTTTCCCTCCGCCTCTCCTC	0.552												
LRRN4CL	221091	broad.mit.edu	37	11	62455850	62455850	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:62455850G>A	uc001nun.2	-	2	438	c.131C>T	c.(130-132)CCG>CTG	p.P44L		NM_203422	NP_981967	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like precursor	44	Extracellular (Potential).					integral to membrane					0						GGGGACAGCCGGCAAAGGCGG	0.652												
TTC9C	283237	broad.mit.edu	37	11	62502877	62502877	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:62502877G>A	uc001nuy.2	+	2	631	c.262G>A	c.(262-264)GTG>ATG	p.V88M	TTC9C_uc001nux.2_Missense_Mutation_p.V221M	NM_173810	NP_776171	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	88	TPR 2.						binding			ovary(1)|pancreas(1)	2						GATGGAGCCCGTGAACTACGA	0.512												
SLC3A2	6520	broad.mit.edu	37	11	62656124	62656124	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:62656124C>T	uc001nwd.2	+	12	2076	c.1852C>T	c.(1852-1854)CCT>TCT	p.P618S	SLC3A2_uc001nwb.2_Missense_Mutation_p.P649S|SLC3A2_uc001nwc.2_Missense_Mutation_p.P619S|SLC3A2_uc001nwe.2_Missense_Mutation_p.P587S|SLC3A2_uc001nwf.2_Missense_Mutation_p.P556S|SLC3A2_uc001nwg.2_Missense_Mutation_p.P517S	NM_002394	NP_002385	P08195	4F2_HUMAN	solute carrier family 3, member 2 isoform c	618	Extracellular (Potential).				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding				0						GAAACTGGAGCCTCACGAAGG	0.642												
MARK2	2011	broad.mit.edu	37	11	63670157	63670157	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:63670157A>G	uc001nxw.2	+	13	1898	c.1319A>G	c.(1318-1320)GAC>GGC	p.D440G	MARK2_uc001nxx.2_Missense_Mutation_p.D440G|MARK2_uc001nxy.2_Missense_Mutation_p.D439G|MARK2_uc001nxv.3_Missense_Mutation_p.D439G|MARK2_uc001nxz.3_Missense_Mutation_p.D406G|MARK2_uc009yoy.2_Missense_Mutation_p.D406G	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	440					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						CCTGAGGAGGACCGGGAGTCA	0.607												
OTUB1	55611	broad.mit.edu	37	11	63764119	63764119	+	Missense_Mutation	SNP	C	C	T	rs147019398		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:63764119C>T	uc001nyf.1	+	4	941	c.337C>T	c.(337-339)CGG>TGG	p.R113W	OTUB1_uc001nyg.1_Silent_p.S86S|OTUB1_uc010rmz.1_Missense_Mutation_p.R150W|OTUB1_uc010rna.1_Silent_p.S52S|OTUB1_uc009ypa.2_Intron|OTUB1_uc009ypb.1_Missense_Mutation_p.R83W	NM_017670	NP_060140	Q96FW1	OTUB1_HUMAN	otubain 1	113	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)	1						GGAGTTGCAGCGGTGAGAAGG	0.612												
PRDX5	25824	broad.mit.edu	37	11	64088505	64088505	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64088505G>A	uc001nzu.2	+	5	623	c.504G>A	c.(502-504)TCG>TCA	p.S168S	PRDX5_uc001nzv.2_Silent_p.S124S|PRDX5_uc001nzw.2_Silent_p.S79S|PRDX5_uc001nzx.2_RNA	NM_012094	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5 isoform a precursor	168	Thioredoxin.				cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity			breast(1)	1					Auranofin(DB00995)	TAGATGATTCGCTGGTGTCCA	0.507												
CCDC88B	283234	broad.mit.edu	37	11	64120317	64120317	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64120317G>A	uc001nzy.2	+	20	3502	c.3458G>A	c.(3457-3459)GGC>GAC	p.G1153D	CCDC88B_uc009ypo.1_Missense_Mutation_p.G1150D|CCDC88B_uc001oaa.2_Missense_Mutation_p.G305D|CCDC88B_uc001oab.1_5'Flank|CCDC88B_uc001oac.2_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	1153	Potential.				microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)|skin(1)	4						CGGCAGCGGGGCCTGGAGGAG	0.677												
CCDC88B	283234	broad.mit.edu	37	11	64121481	64121481	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64121481G>A	uc001nzy.2	+	24	3982	c.3938G>A	c.(3937-3939)GGC>GAC	p.G1313D	CCDC88B_uc009ypo.1_Missense_Mutation_p.G1310D|CCDC88B_uc001oaa.2_Missense_Mutation_p.G465D|CCDC88B_uc001oab.1_Missense_Mutation_p.G144D|CCDC88B_uc001oac.2_Intron	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	1313					microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)|skin(1)	4						CCCAGGAAGGGCAGCTGGCTG	0.468												
RPS6KA4	8986	broad.mit.edu	37	11	64135729	64135729	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64135729G>A	uc001oae.2	+	10	1280	c.1197G>A	c.(1195-1197)ATG>ATA	p.M399I	RPS6KA4_uc001oad.2_Missense_Mutation_p.M399I|RPS6KA4_uc010rnl.1_Missense_Mutation_p.M336I|RPS6KA4_uc001oaf.2_Missense_Mutation_p.M399I|RPS6KA4_uc009ypp.2_Intron|MIR1237_hsa-mir-1237|MI0006327_5'Flank	NM_003942	NP_003933	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	399					axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			lung(3)|ovary(1)|breast(1)	5						GCGCTATGATGCAGGtgggct	0.552												
NRXN2	9379	broad.mit.edu	37	11	64374787	64374787	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64374787G>A	uc001oap.2	-	8	2393	c.1882C>T	c.(1882-1884)CGA>TGA	p.R628*	NRXN2_uc001oar.2_Nonsense_Mutation_p.R1674*|NRXN2_uc001oas.2_Nonsense_Mutation_p.R1604*|NRXN2_uc001oao.2_Nonsense_Mutation_p.R314*|NRXN2_uc001oaq.2_Nonsense_Mutation_p.R1341*	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	628	Cytoplasmic (Potential).				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						ATGTAGTTTCGGCTCTGGTCC	0.597												
PYGM	5837	broad.mit.edu	37	11	64521114	64521114	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64521114C>T	uc001oax.3	-	11	2097	c.1280G>A	c.(1279-1281)CGG>CAG	p.R427Q	PYGM_uc001oay.3_Missense_Mutation_p.R339Q	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	427					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	CGACATGCGCCGCAGCCGGTC	0.687												
CDC42BPG	55561	broad.mit.edu	37	11	64597244	64597244	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64597244C>T	uc001obs.3	-	30	3666	c.3666G>A	c.(3664-3666)CTG>CTA	p.L1222L		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1222	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						CAGGTGCCTGCAGCTCACGGA	0.711												
C11orf2	738	broad.mit.edu	37	11	64878874	64878874	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64878874C>T	uc001ocr.1	+	10	2204	c.2164C>T	c.(2164-2166)CGC>TGC	p.R722C	TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|TM7SF2_uc001ocv.2_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.R598C	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	722					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						CACCTTTGGGCGCTTCGGGCT	0.607												
SYVN1	84447	broad.mit.edu	37	11	64900466	64900466	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64900466C>T	uc001odb.2	-	4	399	c.305G>A	c.(304-306)CGC>CAC	p.R102H	SYVN1_uc001odc.2_Missense_Mutation_p.R102H|SYVN1_uc009yqc.2_Missense_Mutation_p.R102H	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	synoviolin 1 isoform b	102	Helical; (Potential).				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(1)	1						TGCAACAAAGCGGGGGCTGAA	0.552												
CAPN1	823	broad.mit.edu	37	11	64977871	64977871	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64977871G>A	uc009yqd.1	+	20	2118	c.2007G>A	c.(2005-2007)GCG>GCA	p.A669A	CAPN1_uc001odf.1_Silent_p.A669A|CAPN1_uc001odg.1_Silent_p.A669A|CAPN1_uc010roa.1_Silent_p.A410A	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	669	Domain IV.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCGACCTGGCGGTCGACTTTG	0.592												
SLC22A20	440044	broad.mit.edu	37	11	64981838	64981838	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64981838G>A	uc010roc.1	+	2	420	c.417G>A	c.(415-417)GCG>GCA	p.A139A	SLC22A20_uc010rob.1_Silent_p.A139A	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	solute carrier family 22, member 20	139	Helical; (Potential).				ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)	1						GAGACCTGGCGCAGTCCGTCT	0.682												
FRMD8	83786	broad.mit.edu	37	11	65178811	65178811	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65178811G>A	uc001odu.3	+	11	1567	c.1375G>A	c.(1375-1377)GAC>AAC	p.D459N	FRMD8_uc009yqj.2_Missense_Mutation_p.D403N|FRMD8_uc010rof.1_Missense_Mutation_p.D425N	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	459						cytoskeleton	binding			lung(1)|pancreas(1)	2						GCAGCCCGGCGACAGCCTGGA	0.706												
LTBP3	4054	broad.mit.edu	37	11	65315489	65315489	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65315489T>C	uc001oej.2	-	12	2017	c.1748A>G	c.(1747-1749)AAC>AGC	p.N583S	LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Missense_Mutation_p.N13S|LTBP3_uc010roi.1_Missense_Mutation_p.N466S|LTBP3_uc001oei.2_Missense_Mutation_p.N583S|LTBP3_uc010roj.1_Missense_Mutation_p.N284S|LTBP3_uc010rok.1_Missense_Mutation_p.N494S	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	583	Cys-rich.|EGF-like 3.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						GCCACAGATGTTCTGGTTCAG	0.647												
PCNXL3	399909	broad.mit.edu	37	11	65387251	65387251	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65387251G>A	uc001oey.2	+	8	1856	c.1856G>A	c.(1855-1857)CGG>CAG	p.R619Q		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	619						integral to membrane					0						CAGCGGGGCCGGGCTGCCTCC	0.716												
PCNXL3	399909	broad.mit.edu	37	11	65403889	65403889	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65403889G>A	uc001oey.2	+	34	5621	c.5621G>A	c.(5620-5622)GGC>GAC	p.G1874D	PCNXL3_uc001oez.2_Missense_Mutation_p.G761D	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1874	Gly-rich.					integral to membrane					0						CTCCCACCAGGCCCTGGCTGG	0.687												
SIPA1	6494	broad.mit.edu	37	11	65414977	65414977	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65414977G>C	uc001ofb.2	+	9	2321	c.2154G>C	c.(2152-2154)GAG>GAC	p.E718D	SIPA1_uc010rom.1_Missense_Mutation_p.E616D|SIPA1_uc001ofd.2_Missense_Mutation_p.E718D	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	718	PDZ.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity				0						CATTCGCCGAGACGGCGGGGC	0.766												
RELA	5970	broad.mit.edu	37	11	65429435	65429435	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65429435A>G	uc001ofg.2	-	3	299	c.159T>C	c.(157-159)GAT>GAC	p.D53D	RELA_uc001ofh.2_Silent_p.D53D|RELA_uc010ron.1_Silent_p.D53D|RELA_uc009yqr.2_5'UTR|RELA_uc001ofe.2_Silent_p.D53D|RELA_uc001off.2_Silent_p.D53D|RELA_uc009yqs.1_5'Flank	NM_021975	NP_068810	Q04206	TF65_HUMAN	v-rel reticuloendotheliosis viral oncogene	53	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			lung(3)|ovary(1)	4						TCTTGGTGGTATCTGTGCTCC	0.632												
MUS81	80198	broad.mit.edu	37	11	65631120	65631120	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65631120A>G	uc001ofv.3	+	9	1242	c.889A>G	c.(889-891)ACC>GCC	p.T297A	MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_5'UTR	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	MUS81 endonuclease homolog	297	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding				0				READ - Rectum adenocarcinoma(159;0.166)		GCTGCACGTGACCCACACGGT	0.647								Homologous_recombination				
FIBP	9158	broad.mit.edu	37	11	65651477	65651477	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65651477G>A	uc001ogd.2	-	10	1184	c.1063C>T	c.(1063-1065)CGC>TGC	p.R355C	FIBP_uc009yqu.2_Missense_Mutation_p.P340L|FIBP_uc001oge.2_Missense_Mutation_p.R348C	NM_198897	NP_942600	O43427	FIBP_HUMAN	FGF intracellular binding protein isoform a	355					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.166)		AGGCAGCCGCGGAGGGTGCCC	0.502											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GAL3ST3	89792	broad.mit.edu	37	11	65810429	65810429	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65810429G>A	uc001ogv.2	-	2	1005	c.845C>T	c.(844-846)GCG>GTG	p.A282V	GAL3ST3_uc001ogw.2_Missense_Mutation_p.A282V	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	282	Lumenal (Potential).				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(1)	1						ccgcgccagcgccgcggggAT	0.632												
RIN1	9610	broad.mit.edu	37	11	66102301	66102301	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:66102301C>T	uc001ohn.1	-	6	1096	c.969G>A	c.(967-969)GAG>GAA	p.E323E	RIN1_uc010roy.1_Silent_p.E16E|RIN1_uc009yrd.1_Silent_p.E16E|RIN1_uc010roz.1_Silent_p.E218E|RIN1_uc010rpa.1_Silent_p.E218E	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	323	Ras and 14-3-3 protein binding region.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3						CCCCCTCCTCCTCGGAGCTGC	0.711												
DPP3	10072	broad.mit.edu	37	11	66260252	66260252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:66260252C>T	uc001oig.1	+	10	1116	c.1054C>T	c.(1054-1056)CAG>TAG	p.Q352*	DPP3_uc001oif.1_Nonsense_Mutation_p.Q352*|DPP3_uc010rpe.1_Nonsense_Mutation_p.Q341*	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	352					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						GAGCGCAGAGCAGCTGCTGAA	0.612												
SPTBN2	6712	broad.mit.edu	37	11	66460053	66460053	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:66460053A>G	uc001ojd.2	-	25	5216	c.5144T>C	c.(5143-5145)GTG>GCG	p.V1715A		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1715	Spectrin 14.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GGCCGCCACCACCTCGCGCTC	0.672												
PC	5091	broad.mit.edu	37	11	66617168	66617168	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:66617168T>C	uc001ojn.1	-	19	3110	c.3061A>G	c.(3061-3063)AAG>GAG	p.K1021E	PC_uc001ojo.1_Missense_Mutation_p.K1021E|PC_uc001ojp.1_Missense_Mutation_p.K1021E|PC_uc001ojm.1_Missense_Mutation_p.K10E	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	1021					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTGAAGTCCTTGAAGTGGGCA	0.587												
KDM2A	22992	broad.mit.edu	37	11	67018208	67018208	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:67018208C>T	uc001ojw.2	+	17	3571	c.2707C>T	c.(2707-2709)CGC>TGC	p.R903C	KDM2A_uc001ojx.2_Intron|KDM2A_uc001ojy.2_Missense_Mutation_p.R597C|KDM2A_uc010rpn.1_Missense_Mutation_p.R464C|KDM2A_uc001ojz.1_Missense_Mutation_p.R361C|KDM2A_uc001oka.2_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	903	F-box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						GTCTGTCTTCCGCTACCTCAG	0.572												
KDM2A	22992	broad.mit.edu	37	11	67022389	67022389	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:67022389A>G	uc001ojw.2	+	21	4216	c.3352A>G	c.(3352-3354)ATT>GTT	p.I1118V	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.I812V|KDM2A_uc001ojz.1_3'UTR|KDM2A_uc001oka.2_Missense_Mutation_p.I242V	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	1118	LRR 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						CCTACGGCGCATTGCCAACGT	0.502												
SSH3	54961	broad.mit.edu	37	11	67077245	67077245	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:67077245G>T	uc001okj.2	+	12	1393	c.1215G>T	c.(1213-1215)CAG>CAT	p.Q405H	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Missense_Mutation_p.Q259H	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	405	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			ACAGAGCACAGGGCACCCACG	0.632												
TBC1D10C	374403	broad.mit.edu	37	11	67172910	67172910	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:67172910G>A	uc001ola.2	+	4	322	c.293G>A	c.(292-294)CGC>CAC	p.R98H	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_Missense_Mutation_p.R98H|TBC1D10C_uc001olb.2_RNA	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	98	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCTGCCCTGCGCGCCCGATGC	0.647												
TMEM134	80194	broad.mit.edu	37	11	67232302	67232302	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:67232302C>T	uc001olq.1	-	6	545	c.477G>A	c.(475-477)GTG>GTA	p.V159V	TMEM134_uc001olp.1_Silent_p.V150V|TMEM134_uc001olr.1_Silent_p.V144V|TMEM134_uc001ols.1_RNA|TMEM134_uc001olt.1_RNA	NM_025124	NP_079400	Q9H6X4	TM134_HUMAN	transmembrane protein 134 isoform a	159	Helical; (Potential).					integral to membrane					0						GGAAGCCCGGCACGAAGAAGA	0.433												
NDUFV1	4723	broad.mit.edu	37	11	67376963	67376963	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:67376963G>T	uc001omj.2	+	4	520	c.367G>T	c.(367-369)GGC>TGC	p.G123C	NDUFV1_uc010rpv.1_Missense_Mutation_p.G22C|NDUFV1_uc001oml.2_Missense_Mutation_p.G116C|NDUFV1_uc001omk.3_Missense_Mutation_p.G114C|NDUFV1_uc009yrz.1_Missense_Mutation_p.G22C|NDUFV1_uc010rpw.1_5'Flank	NM_007103	NP_009034	P49821	NDUV1_HUMAN	NADH dehydrogenase ubiquinone flavoprotein 1	123					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)	GGGGGAGCCGGGCACCTGCAA	0.647												
LRP5	4041	broad.mit.edu	37	11	68115579	68115579	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:68115579G>A	uc001ont.2	+	2	431	c.356G>A	c.(355-357)GGC>GAC	p.G119D	LRP5_uc009ysg.2_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	119	Beta-propeller 1.|LDL-receptor class B 1.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						GACTGGGTGGGCAAGAAGCTG	0.632												
LRP5	4041	broad.mit.edu	37	11	68177424	68177424	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:68177424G>A	uc001ont.2	+	10	2209	c.2134G>A	c.(2134-2136)GTG>ATG	p.V712M	LRP5_uc009ysg.2_Missense_Mutation_p.V122M	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	712	LDL-receptor class B 11.|Beta-propeller 3.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						GGTGGAGCACGTGGTGGAGTT	0.557												
LRP5	4041	broad.mit.edu	37	11	68192762	68192762	+	Splice_Site	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:68192762T>C	uc001ont.2	+	15	3502	c.3427_splice	c.e15+2	p.G1143_splice	LRP5_uc009ysg.2_Splice_Site_p.G553_splice	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein						adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						ACCTGTCAGGTACGCGCCCCG	0.488												
KRTAP5-9	3846	broad.mit.edu	37	11	71260197	71260197	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:71260197A>G	uc001oqs.1	+	1	732	c.494A>G	c.(493-495)TAC>TGC	p.Y165C		NM_005553	NP_005544	P26371	KRA59_HUMAN	keratin associated protein 5-9	165					epidermis development	keratin filament					0						CCTGTGTGCTACCAGTGCAAG	0.562												
RNF121	55298	broad.mit.edu	37	11	71705779	71705779	+	Silent	SNP	G	G	A	rs142590831		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:71705779G>A	uc001ora.2	+	7	982	c.642G>A	c.(640-642)TCG>TCA	p.S214S	RNF121_uc001ord.2_Silent_p.S133S|RNF121_uc001orb.2_Silent_p.S182S|RNF121_uc009yst.2_Intron	NM_018320	NP_060790	Q9H920	RN121_HUMAN	ring finger protein 121	214						integral to membrane	zinc ion binding				0						ACAGCGAGTCGGGCATGCCTA	0.488												
NUMA1	4926	broad.mit.edu	37	11	71720111	71720111	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:71720111G>A	uc001orl.1	-	19	5132	c.4960C>T	c.(4960-4962)CGG>TGG	p.R1654W	NUMA1_uc001orj.2_5'Flank|NUMA1_uc009ysw.1_Missense_Mutation_p.R1203W|NUMA1_uc001ork.1_Missense_Mutation_p.R518W|NUMA1_uc001orm.1_Missense_Mutation_p.R1640W|NUMA1_uc001orn.2_Missense_Mutation_p.R1217W	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1654	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						TGGCCCAGCCGTTCAGCTTCA	0.597			T	RARA	APL							
CLPB	81570	broad.mit.edu	37	11	72145511	72145511	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:72145511C>A	uc001osj.2	-	1	58	c.8G>T	c.(7-9)GGG>GTG	p.G3V	CLPB_uc010rqx.1_5'UTR|CLPB_uc010rqy.1_Missense_Mutation_p.G3V|CLPB_uc001osk.2_Missense_Mutation_p.G3V|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_5'UTR	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	3					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						CACCAGGGACCCCAGCATCTT	0.657											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ARAP1	116985	broad.mit.edu	37	11	72404824	72404824	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:72404824C>T	uc001osu.2	-	28	3910	c.3721G>A	c.(3721-3723)GTG>ATG	p.V1241M	ARAP1_uc001osv.2_Missense_Mutation_p.V1241M|ARAP1_uc001osr.2_Missense_Mutation_p.V1001M|ARAP1_uc001oss.2_Missense_Mutation_p.V996M|ARAP1_uc009yth.2_Missense_Mutation_p.V935M|ARAP1_uc010rre.1_Missense_Mutation_p.V996M	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1241	Ras-associating.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						ATGGGCAGCACCTTCTCCGCA	0.637												
ARAP1	116985	broad.mit.edu	37	11	72422546	72422546	+	Splice_Site	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:72422546T>C	uc001osu.2	-	8	1212	c.1023_splice	c.e8-1	p.G341_splice	ARAP1_uc001osv.2_Splice_Site_p.G341_splice|ARAP1_uc001osr.2_Splice_Site_p.G101_splice|ARAP1_uc001oss.2_Splice_Site_p.G96_splice|ARAP1_uc009yth.2_Splice_Site_p.G96_splice|ARAP1_uc010rre.1_Splice_Site_p.G96_splice	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH						actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						ATGTAAGATCTGGAGAGGGAG	0.542												
FCHSD2	9873	broad.mit.edu	37	11	72598525	72598525	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:72598525C>T	uc009ytl.2	-	12	1357	c.1136G>A	c.(1135-1137)CGT>CAT	p.R379H	FCHSD2_uc010rrg.1_Missense_Mutation_p.R243H|FCHSD2_uc001oth.3_Missense_Mutation_p.R323H|FCHSD2_uc001oti.2_Missense_Mutation_p.R338H	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	379	Potential.						protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CTCTGCTTTACGAATATTTTC	0.403												
ARHGEF17	9828	broad.mit.edu	37	11	73021469	73021469	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:73021469C>T	uc001otu.2	+	1	1807	c.1786C>T	c.(1786-1788)CGC>TGC	p.R596C		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	596					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						GCAGGAGGCCCGCCAGGTTTT	0.627												
RELT	84957	broad.mit.edu	37	11	73103367	73103367	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:73103367C>T	uc001otv.2	+	6	644	c.479C>T	c.(478-480)GCC>GTC	p.A160V	RELT_uc001otw.2_Missense_Mutation_p.A160V|RELT_uc009yto.1_Missense_Mutation_p.A78V|RELT_uc001otx.2_5'Flank	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor precursor	160	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1						GAGGAGACAGCCGCCCAGTAC	0.687												
PAAF1	80227	broad.mit.edu	37	11	73625524	73625524	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:73625524G>A	uc001ouk.1	+	8	828	c.794G>A	c.(793-795)TGC>TAC	p.C265Y	PAAF1_uc001oul.1_Missense_Mutation_p.C248Y|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Missense_Mutation_p.C248Y	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	265					interspecies interaction between organisms	proteasome complex	protein binding			ovary(1)|skin(1)	2	Breast(11;7.42e-05)					AAACTTCAGTGCTTGGGACTA	0.463												
CHRDL2	25884	broad.mit.edu	37	11	74413990	74413990	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:74413990G>A	uc001ovi.2	-	9	1222	c.969C>T	c.(967-969)CAC>CAT	p.H323H	CHRDL2_uc001ovg.2_Silent_p.H207H|CHRDL2_uc001ovh.2_Silent_p.H323H|CHRDL2_uc001ovj.1_RNA|CHRDL2_uc001ovk.1_Silent_p.H258H			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;	323					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)					TGATCTCACTGTGGCCAGGGT	0.522											OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
XRRA1	143570	broad.mit.edu	37	11	74554379	74554379	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:74554379G>A	uc009yub.2	-	19	2577	c.2245C>T	c.(2245-2247)CGC>TGC	p.R749C	XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovn.2_Missense_Mutation_p.R372C|XRRA1_uc001ovo.2_Missense_Mutation_p.R357C|XRRA1_uc001ovq.3_3'UTR|XRRA1_uc001ovp.3_Missense_Mutation_p.R474C|XRRA1_uc001ovr.2_3'UTR|XRRA1_uc001ovs.1_3'UTR	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	749					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1						AACACTGTGCGCAGAGAGCCA	0.612												
B3GNT6	192134	broad.mit.edu	37	11	76751188	76751188	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:76751188C>T	uc001oxw.2	+	2	681	c.593C>T	c.(592-594)ACG>ATG	p.T198M		NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal	198	Lumenal (Potential).				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity				0						CTCAACCTCACGCTCAAGCAC	0.706												
MYO7A	4647	broad.mit.edu	37	11	76910689	76910689	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:76910689T>C	uc001oyb.2	+	35	4950	c.4678T>C	c.(4678-4680)TGC>CGC	p.C1560R	MYO7A_uc010rsm.1_Intron|MYO7A_uc001oyc.2_Intron|MYO7A_uc009yus.1_Intron|MYO7A_uc009yut.1_Intron	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1560	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						GTGTTGGTCCTGCAGGGGAGC	0.627												
GAB2	9846	broad.mit.edu	37	11	77930333	77930333	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:77930333C>A	uc001ozh.2	-	10	2016	c.2016G>T	c.(2014-2016)AAG>AAT	p.K672N	GAB2_uc001ozg.2_Missense_Mutation_p.K634N	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2 isoform a	672					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity			ovary(5)|lung(1)	6	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GCTTGGCACCCTTGGAAGGCT	0.617												
GAB2	9846	broad.mit.edu	37	11	77937549	77937549	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:77937549T>C	uc001ozh.2	-	4	1169	c.1169A>G	c.(1168-1170)AAC>AGC	p.N390S	GAB2_uc001ozg.2_Missense_Mutation_p.N352S	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2 isoform a	390					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity			ovary(5)|lung(1)	6	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AGGGAGGGTGTTGCGTCTGGG	0.547												
ODZ4	26011	broad.mit.edu	37	11	78467902	78467902	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:78467902C>T	uc001ozl.3	-	19	3167	c.2704G>A	c.(2704-2706)GTG>ATG	p.V902M		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	902	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						TCCCTGCCCACGAGGAACTTG	0.597												
C11orf82	220042	broad.mit.edu	37	11	82644065	82644065	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:82644065C>T	uc001ozt.2	+	6	1929	c.1685C>T	c.(1684-1686)TCA>TTA	p.S562L	C11orf82_uc010rsr.1_Missense_Mutation_p.S261L|C11orf82_uc010rss.1_Missense_Mutation_p.S261L|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	562					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						ATCAGAATCTCACCACACAGG	0.338												
SYTL2	54843	broad.mit.edu	37	11	85445464	85445464	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:85445464G>T	uc010rth.1	-	6	1181	c.905C>A	c.(904-906)CCT>CAT	p.P302H	SYTL2_uc010rtg.1_Missense_Mutation_p.P303H|SYTL2_uc010rti.1_Missense_Mutation_p.P302H|SYTL2_uc010rtj.1_Missense_Mutation_p.P254H|SYTL2_uc001pbf.3_Missense_Mutation_p.P302H|SYTL2_uc010rtf.1_Missense_Mutation_p.P160H	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	302					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GGTTAGGCCAGGTGACACAAT	0.453												
CCDC81	60494	broad.mit.edu	37	11	86133683	86133683	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:86133683C>T	uc001pbx.1	+	15	2313	c.1885C>T	c.(1885-1887)CGC>TGC	p.R629C	CCDC81_uc001pbw.1_Missense_Mutation_p.R539C|CCDC81_uc010rtq.1_Missense_Mutation_p.R412C|CCDC81_uc001pby.1_Missense_Mutation_p.R364C	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81 isoform 1	629										skin(1)	1		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ATGCCAGAGGCGCACCTCCAA	0.557												
TMEM135	65084	broad.mit.edu	37	11	86782632	86782632	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:86782632G>A	uc001pch.2	+	3	360	c.337G>A	c.(337-339)GCC>ACC	p.A113T	TMEM135_uc010rtt.1_5'UTR|TMEM135_uc001pci.2_Missense_Mutation_p.A113T|TMEM135_uc001pcg.1_Missense_Mutation_p.A113T	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	transmembrane protein 135	113	Helical; (Potential).					integral to membrane					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATCTTATGTGGCCATTCTCAT	0.338												
TMEM135	65084	broad.mit.edu	37	11	87025590	87025590	+	Splice_Site	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:87025590G>A	uc001pch.2	+	12	1100	c.1077_splice	c.e12+1	p.E359_splice	TMEM135_uc010rtt.1_Splice_Site_p.E220_splice|TMEM135_uc001pci.2_Splice_Site_p.E337_splice	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	transmembrane protein 135							integral to membrane					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTGGTAGAGGTAAGCGAAAT	0.318												
FAT3	120114	broad.mit.edu	37	11	92531598	92531598	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:92531598C>T	uc001pdj.3	+	9	5436	c.5419C>T	c.(5419-5421)CGG>TGG	p.R1807W		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1807	Cadherin 16.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGACAGCAACCGGAATGCTCT	0.483										TCGA Ovarian(4;0.039)		
FAT3	120114	broad.mit.edu	37	11	92569867	92569867	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:92569867C>T	uc001pdj.3	+	15	10239	c.10222C>T	c.(10222-10224)CGG>TGG	p.R3408W		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3408	Extracellular (Potential).|Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGACCGGGAACGGGTAAGCTA	0.418										TCGA Ovarian(4;0.039)		
FAT3	120114	broad.mit.edu	37	11	92590423	92590423	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:92590423G>A	uc001pdj.3	+	19	11426	c.11409G>A	c.(11407-11409)CCG>CCA	p.P3803P	FAT3_uc001pdi.3_Silent_p.P243P	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3803	EGF-like 1.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGAGAAGCCGTGTCCAGGGG	0.557										TCGA Ovarian(4;0.039)		
MED17	9440	broad.mit.edu	37	11	93530729	93530729	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:93530729T>C	uc001pem.3	+	8	1447	c.1172T>C	c.(1171-1173)ATG>ACG	p.M391T		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	391					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGTTCCATCATGATGCCTCAT	0.353												
PIWIL4	143689	broad.mit.edu	37	11	94326792	94326792	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:94326792C>T	uc001pfa.2	+	9	1346	c.1135C>T	c.(1135-1137)CTC>TTC	p.L379F	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	379	PAZ.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GATACCTGAGCTCTGCTTTCT	0.468												
CNTN5	53942	broad.mit.edu	37	11	99932040	99932040	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:99932040A>G	uc001pga.2	+	10	1416	c.1077A>G	c.(1075-1077)GTA>GTG	p.V359V	CNTN5_uc009ywv.1_Silent_p.V359V|CNTN5_uc001pfz.2_Silent_p.V359V|CNTN5_uc001pgb.2_Silent_p.V285V	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	359	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TACCGAATGTACAGCTGGATG	0.438												
TRPC6	7225	broad.mit.edu	37	11	101359689	101359689	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:101359689G>A	uc001pgk.3	-	4	1697	c.1272C>T	c.(1270-1272)TAC>TAT	p.Y424Y	TRPC6_uc009ywy.2_Intron|TRPC6_uc009ywz.1_Intron	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	424	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GAGCAAACCAGTAAATGAGAG	0.438												
BIRC3	330	broad.mit.edu	37	11	102195668	102195668	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:102195668C>T	uc001pgx.2	+	3	650	c.428C>T	c.(427-429)TCA>TTA	p.S143L		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	baculoviral IAP repeat-containing protein 3	143					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		AACTCTCCATCAAATCCTGTA	0.388			T	MALT1	MALT							
MMP8	4317	broad.mit.edu	37	11	102585357	102585357	+	Missense_Mutation	SNP	C	C	T	rs149306045	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:102585357C>T	uc001phe.2	-	8	1219	c.1120G>A	c.(1120-1122)GTC>ATC	p.V374I	MMP8_uc010rut.1_Intron|MMP8_uc010ruu.1_Missense_Mutation_p.V351I	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	374					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		ATTGCTTGGACGCTGCTGGGG	0.398												
CASP5	838	broad.mit.edu	37	11	104871014	104871014	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:104871014A>G	uc010rva.1	-	6	958	c.926T>C	c.(925-927)GTC>GCC	p.V309A	CASP5_uc010ruz.1_Missense_Mutation_p.V322A|CASP5_uc010rvb.1_Missense_Mutation_p.V251A|CASP5_uc010rvc.1_Missense_Mutation_p.V167A|CASP5_uc009yxh.2_Missense_Mutation_p.V91A|CASP5_uc010rvd.1_Missense_Mutation_p.V91A	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	309					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GACAATGATGACCTTGGGTTT	0.438												
FDXACB1	91893	broad.mit.edu	37	11	111747642	111747642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:111747642C>T	uc001pmc.3	-	3	720	c.423G>A	c.(421-423)TGG>TGA	p.W141*	ALG9_uc010rwo.1_5'UTR|FDXACB1_uc009yyi.2_5'UTR|C11orf1_uc001pmd.2_5'Flank	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain	141					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0						AACTGTTGTGCCATTCTCTCT	0.532												
FDXACB1	91893	broad.mit.edu	37	11	111749409	111749409	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:111749409C>T	uc001pmc.3	-	2	497	c.200G>A	c.(199-201)TGC>TAC	p.C67Y	ALG9_uc010rwo.1_5'UTR|FDXACB1_uc009yyi.2_Intron|C11orf1_uc001pmd.2_5'Flank|C11orf1_uc001pme.2_5'Flank	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain	67					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0						CAGCTGGGTGCAGTCCACACC	0.463											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZW10	9183	broad.mit.edu	37	11	113614710	113614710	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:113614710T>A	uc001poe.2	-	10	1362	c.1325A>T	c.(1324-1326)GAT>GTT	p.D442V	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	442					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CAGTTTGTTATCCTCATCAGG	0.348												
APOA1	335	broad.mit.edu	37	11	116707727	116707727	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:116707727T>C	uc001ppu.1	-	3	269	c.190A>G	c.(190-192)AAA>GAA	p.K64E	APOA1_uc001ppv.1_Missense_Mutation_p.K64E	NM_000039	NP_000030	P02647	APOA1_HUMAN	apolipoprotein A-I preproprotein	64					Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding				0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TTTAGCTGTTTTCCCAAGGCG	0.582												
SIK3	23387	broad.mit.edu	37	11	116968908	116968908	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:116968908C>T	uc001ppy.2	-	1	86	c.50G>A	c.(49-51)GGC>GAC	p.G17D	SIK3_uc001ppz.2_5'UTR|SIK3_uc001pqa.2_Missense_Mutation_p.G17D	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	17	ATP (By similarity).|Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						CGCGAAGTTGCCCTTGCCGAT	0.577												
CEP164	22897	broad.mit.edu	37	11	117214899	117214899	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:117214899C>T	uc001prc.2	+	4	247	c.100C>T	c.(100-102)CGG>TGG	p.R34W	CEP164_uc001prb.2_Missense_Mutation_p.R34W|CEP164_uc001prd.2_Missense_Mutation_p.R34W|CEP164_uc010rxj.1_5'UTR|CEP164_uc010rxk.1_Missense_Mutation_p.R34W	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	34	Interaction with ATRIP.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGAATTTGCCCGGGAGATTGG	0.463												
DSCAML1	57453	broad.mit.edu	37	11	117309654	117309654	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:117309654G>A	uc001prh.1	-	24	4372	c.4370C>T	c.(4369-4371)TCG>TTG	p.S1457L		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1397	Fibronectin type-III 5.|Extracellular (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTGATGGACGAAGCTGAGGT	0.617												
TMPRSS4	56649	broad.mit.edu	37	11	117975456	117975456	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:117975456G>T	uc010rxo.1	+	5	652	c.361G>T	c.(361-363)GGG>TGG	p.G121W	TMPRSS4_uc010rxp.1_Missense_Mutation_p.G121W|TMPRSS4_uc010rxq.1_Translation_Start_Site|TMPRSS4_uc010rxr.1_Missense_Mutation_p.G96W|TMPRSS4_uc010rxs.1_Missense_Mutation_p.G81W|TMPRSS4_uc009yzu.2_RNA|TMPRSS4_uc010rxt.1_Missense_Mutation_p.G96W	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4 isoform 1	121	Extracellular (Potential).|SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CTCGGCCACAGGGAACTGGTT	0.592												
MLL	4297	broad.mit.edu	37	11	118376815	118376815	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:118376815C>T	uc001pta.2	+	27	10222	c.10199C>T	c.(10198-10200)CCG>CTG	p.P3400L	MLL_uc001ptb.2_Missense_Mutation_p.P3403L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3400					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GTGGCTTTACCGCCAAGTTCA	0.517			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL							
MLL	4297	broad.mit.edu	37	11	118392684	118392684	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:118392684C>T	uc001pta.2	+	36	11730	c.11707C>T	c.(11707-11709)CGC>TGC	p.R3903C	MLL_uc001ptb.2_Missense_Mutation_p.R3906C|MLL_uc001ptf.2_5'Flank	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3903	SET.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AAATGCTGCACGCTTCATCAA	0.473			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL							
TMEM25	84866	broad.mit.edu	37	11	118403005	118403005	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:118403005C>T	uc010rye.1	+	3	385	c.211C>T	c.(211-213)CTG>TTG	p.L71L	TMEM25_uc010ryd.1_Silent_p.L71L|TMEM25_uc001ptk.3_Silent_p.L71L|TMEM25_uc001pth.2_Silent_p.L71L|TMEM25_uc009zad.2_Silent_p.L71L|TMEM25_uc001pti.2_Intron|TMEM25_uc010ryf.1_Silent_p.L71L|TMEM25_uc001ptl.2_Silent_p.L71L|TMEM25_uc001ptm.2_Silent_p.L71L|TMEM25_uc001ptn.2_Silent_p.L71L	NM_032780	NP_116169	Q86YD3	TMM25_HUMAN	transmembrane protein 25 isoform 1	71	Extracellular (Potential).|Ig-like.					extracellular region|integral to membrane|plasma membrane					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GGATGGACAGCTGCAGGAGGC	0.657												
NLRX1	79671	broad.mit.edu	37	11	119044487	119044487	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:119044487C>T	uc001pvu.2	+	5	744	c.529C>T	c.(529-531)CGC>TGC	p.R177C	NLRX1_uc010rzc.1_5'UTR|NLRX1_uc001pvv.2_Missense_Mutation_p.R177C|NLRX1_uc001pvw.2_Missense_Mutation_p.R177C|NLRX1_uc001pvx.2_Missense_Mutation_p.R177C	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	177	Required for interaction with MAVS.|NACHT.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CACGCTGGTGCGCAAGATGGT	0.632												
OAF	220323	broad.mit.edu	37	11	120082132	120082132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:120082132C>T	uc001pxb.2	+	1	386	c.145C>T	c.(145-147)CAG>TAG	p.Q49*		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	OAF homolog precursor	49											0		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GGAGAGCCTGCAGGCGGACAG	0.617												
ARHGEF12	23365	broad.mit.edu	37	11	120350888	120350888	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:120350888G>A	uc001pxl.1	+	38	3993	c.3986G>A	c.(3985-3987)CGG>CAG	p.R1329Q	ARHGEF12_uc009zat.2_Missense_Mutation_p.R1310Q|ARHGEF12_uc009zau.1_Missense_Mutation_p.R1226Q	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1329					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TACAGTCCACGGACTTCAACT	0.448			T	MLL	AML							
GRIK4	2900	broad.mit.edu	37	11	120856905	120856905	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:120856905C>T	uc001pxn.2	+	21	3094	c.2807C>T	c.(2806-2808)TCG>TTG	p.S936L	GRIK4_uc009zaw.1_Missense_Mutation_p.S936L|GRIK4_uc009zax.1_Missense_Mutation_p.S936L	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	936	Cytoplasmic (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GCACGGCCGTCGCCCGCCCGC	0.692												
GRAMD1B	57476	broad.mit.edu	37	11	123448200	123448200	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:123448200C>T	uc001pyx.2	+	2	478	c.149C>T	c.(148-150)TCG>TTG	p.S50L	GRAMD1B_uc001pyw.2_Missense_Mutation_p.S50L|GRAMD1B_uc010rzw.1_Missense_Mutation_p.S10L|GRAMD1B_uc010rzx.1_Missense_Mutation_p.S10L|GRAMD1B_uc009zbe.1_Missense_Mutation_p.S46L	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	50						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GATCACTCCTCGGACAAGTCC	0.687											OREG0021454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GRAMD1B	57476	broad.mit.edu	37	11	123484310	123484310	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:123484310G>A	uc001pyx.2	+	15	2071	c.1742G>A	c.(1741-1743)AGC>AAC	p.S581N	GRAMD1B_uc001pyw.2_Missense_Mutation_p.S588N|GRAMD1B_uc010rzw.1_Missense_Mutation_p.S541N|GRAMD1B_uc010rzx.1_Missense_Mutation_p.S541N|GRAMD1B_uc001pyy.2_Missense_Mutation_p.S272N	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	581						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GAGGTGATGAGCCCGGTCACC	0.602												
ZNF202	7753	broad.mit.edu	37	11	123597198	123597198	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:123597198T>C	uc001pzd.1	-	9	1854	c.1454A>G	c.(1453-1455)GAT>GGT	p.D485G	ZNF202_uc001pzc.1_Missense_Mutation_p.D261G|ZNF202_uc001pze.1_Missense_Mutation_p.D485G|ZNF202_uc001pzf.1_Missense_Mutation_p.D485G	NM_003455	NP_003446	O95125	ZN202_HUMAN	zinc finger protein 202	485	C2H2-type 3.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CTTTCCGCAATCATCACATCT	0.458												
OR10G4	390264	broad.mit.edu	37	11	123886751	123886751	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:123886751T>C	uc010sac.1	+	1	470	c.470T>C	c.(469-471)GTC>GCC	p.V157A		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CACTCTGCTGTCCAGACCATA	0.577												
OR8B4	283162	broad.mit.edu	37	11	124294519	124294519	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:124294519A>G	uc010sak.1	-	1	249	c.249T>C	c.(247-249)AAT>AAC	p.N83N		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	83	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAACAAAGTCATTCAGCATTT	0.378												
ROBO3	64221	broad.mit.edu	37	11	124738881	124738881	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:124738881G>A	uc001qbc.2	+	2	536	c.344G>A	c.(343-345)CGC>CAC	p.R115H		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	115	Ig-like C2-type 1.|Extracellular (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CGTGCGCACCGCCTGCTGCTG	0.697												
HEPN1	641654	broad.mit.edu	37	11	124789773	124789773	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:124789773T>C	uc001qbj.1	+	1	628	c.127T>C	c.(127-129)TCC>CCC	p.S43P	HEPACAM_uc009zbj.2_3'UTR|HEPACAM_uc001qbk.2_3'UTR	NM_001037558	NP_001032647	Q6WQI6	HEPN1_HUMAN	HEPACAM opposite strand 1	43						cytoplasm					0	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		ACAGAGGGCCTCCTTCTCTTT	0.507												
SRPR	6734	broad.mit.edu	37	11	126137069	126137069	+	Splice_Site	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:126137069C>T	uc001qdh.2	-	4	577	c.526_splice	c.e4+1	p.G176_splice	SRPR_uc010sbm.1_Splice_Site_p.G148_splice|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor						SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTCAAACTTGCCTTCCTTCTT	0.458												
ETS1	2113	broad.mit.edu	37	11	128332264	128332264	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:128332264C>T	uc010sbs.1	-	8	1634	c.1318G>A	c.(1318-1320)GAC>AAC	p.D440N	ETS1_uc001qej.2_Missense_Mutation_p.D484N|ETS1_uc009zch.2_Missense_Mutation_p.D224N|ETS1_uc009zcg.2_3'UTR	NM_005238	NP_005229	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	440					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CATCACTCGTCGGCATCTGGC	0.547												
ARHGAP32	9743	broad.mit.edu	37	11	128839759	128839759	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:128839759G>A	uc009zcp.2	-	22	5307	c.5307C>T	c.(5305-5307)GTC>GTT	p.V1769V	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.V728V|ARHGAP32_uc001qez.2_Silent_p.V1420V	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1769	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						ATTGGGACATGACAGGCCCTT	0.527												
ADAMTS15	170689	broad.mit.edu	37	11	130332061	130332061	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:130332061G>A	uc010scd.1	+	3	1170	c.1170G>A	c.(1168-1170)ATG>ATA	p.M390I		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	390	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		ACCACATGATGTCCCCGACCC	0.587												
NTM	50863	broad.mit.edu	37	11	132204993	132204993	+	Missense_Mutation	SNP	G	G	A	rs145004908		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:132204993G>A	uc001qgp.2	+	7	1652	c.988G>A	c.(988-990)GTC>ATC	p.V330I	NTM_uc001qgm.2_Missense_Mutation_p.V330I|NTM_uc010sch.1_Missense_Mutation_p.V332I|NTM_uc010sci.1_Missense_Mutation_p.V341I|NTM_uc010scj.1_Missense_Mutation_p.V289I|NTM_uc001qgq.2_Missense_Mutation_p.V341I|NTM_uc001qgr.2_Missense_Mutation_p.V112I	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	330					cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						GGCAGGCTGCGTCTGGCTGCT	0.607												
GLB1L3	112937	broad.mit.edu	37	11	134147250	134147250	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:134147250C>T	uc009zdf.2	+	2	414	c.54C>T	c.(52-54)GGC>GGT	p.G18G	GLB1L3_uc010scs.1_Silent_p.G18G|GLB1L3_uc010sct.1_5'Flank	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	18					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GAATGGCGGGCATCTTTTTCC	0.552												
GLB1L3	112937	broad.mit.edu	37	11	134181034	134181034	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:134181034G>A	uc009zdf.2	+	13	1617	c.1257G>A	c.(1255-1257)CCG>CCA	p.P419P	GLB1L3_uc010scu.1_3'UTR|GLB1L3_uc001qho.3_RNA	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	419					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TGTACCTCCCGCTGTGGGACG	0.617												
B3GAT1	27087	broad.mit.edu	37	11	134253759	134253759	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:134253759C>T	uc001qhq.2	-	4	697	c.436G>A	c.(436-438)GTG>ATG	p.V146M	B3GAT1_uc001qhr.2_Missense_Mutation_p.V146M|B3GAT1_uc010scv.1_Missense_Mutation_p.V159M	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	146	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGCGTCTCCACGTGCAGGTGC	0.731												
B3GAT1	27087	broad.mit.edu	37	11	134253872	134253872	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:134253872G>A	uc001qhq.2	-	4	584	c.323C>T	c.(322-324)ACG>ATG	p.T108M	B3GAT1_uc001qhr.2_Missense_Mutation_p.T108M|B3GAT1_uc010scv.1_Missense_Mutation_p.T121M	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	108	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GTGCAGCAGCGTGTTGGCCAT	0.721												
NINJ2	4815	broad.mit.edu	37	12	675144	675144	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:675144C>A	uc001qil.2	-	2	463	c.372G>T	c.(370-372)GTG>GTT	p.V124V	NINJ2_uc010sdr.1_Silent_p.V42V|NINJ2_uc010sds.1_Silent_p.V124V	NM_016533	NP_057617	Q9NZG7	NINJ2_HUMAN	ninjurin 2	78	Helical; (Potential).				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				ovary(2)	2	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CACCGATGACCACCTGCAGGA	0.637												
WNK1	65125	broad.mit.edu	37	12	939206	939206	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:939206G>A	uc001qio.3	+	4	1698	c.1191G>A	c.(1189-1191)GAG>GAA	p.E397E	WNK1_uc001qip.3_Silent_p.E397E	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	397	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGTATGAGGAGAAATATGATG	0.453												
ERC1	23085	broad.mit.edu	37	12	1137146	1137146	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:1137146G>A	uc001qjb.2	+	2	318	c.77G>A	c.(76-78)CGT>CAT	p.R26H	ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.R26H|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.R26H	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	26					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGGCTTCCACGTTCCCCTCGC	0.572												
ERC1	23085	broad.mit.edu	37	12	1137661	1137661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:1137661C>T	uc001qjb.2	+	2	833	c.592C>T	c.(592-594)CGA>TGA	p.R198*	ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Nonsense_Mutation_p.R198*|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Nonsense_Mutation_p.R198*	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	198	Potential.				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAAGAAGGAACGAGCCCTGAG	0.433												
ITFG2	55846	broad.mit.edu	37	12	2922024	2922024	+	Splice_Site	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:2922024T>C	uc001qlb.1	+	1	160	c.96_splice	c.e1+2	p.T32_splice	ITFG2_uc001qla.1_Splice_Site_p.T32_splice|ITFG2_uc010seb.1_Splice_Site|ITFG2_uc010sec.1_Splice_Site	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2												0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AACGATACGGTAGGTGCATGC	0.632												
FOXM1	2305	broad.mit.edu	37	12	2973658	2973658	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:2973658C>T	uc001qlf.2	-	8	1359	c.1094G>A	c.(1093-1095)CGG>CAG	p.R365Q	FOXM1_uc001qle.2_Missense_Mutation_p.R365Q|FOXM1_uc001qlg.2_Missense_Mutation_p.R350Q|FOXM1_uc009zea.2_Missense_Mutation_p.R350Q|FOXM1_uc009zeb.2_Missense_Mutation_p.R349Q	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 2	365					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CTTCATCTTCCGCCCTAGGAG	0.582												
FGF6	2251	broad.mit.edu	37	12	4554487	4554487	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:4554487G>A	uc001qmr.1	-	1	294	c.250C>T	c.(250-252)CGG>TGG	p.R84W		NM_020996	NP_066276	P10767	FGF6_HUMAN	fibroblast growth factor 6 precursor	84					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			lung(2)|ovary(1)	3			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CTCCGCTGCCGCTTGATCCCC	0.652												
AKAP3	10566	broad.mit.edu	37	12	4735743	4735743	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:4735743G>A	uc001qnb.3	-	4	2554	c.2325C>T	c.(2323-2325)GCC>GCT	p.A775A		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	775					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						ATTGAAGGACGGCTTGGAGTT	0.507												
AKAP3	10566	broad.mit.edu	37	12	4737134	4737134	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:4737134T>C	uc001qnb.3	-	4	1163	c.934A>G	c.(934-936)ACC>GCC	p.T312A		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	312					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						GTGGCAATGGTTGTGTCTTTC	0.468												
KCNA1	3736	broad.mit.edu	37	12	5020649	5020649	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:5020649C>T	uc001qnh.2	+	2	1210	c.105C>T	c.(103-105)TGC>TGT	p.C35C		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	35				CC->AA: No effect on palmitoylation, no effect on current kinetics.	synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACCACGAGTGCTGCGAGCGCG	0.672												
KCNA1	3736	broad.mit.edu	37	12	5021254	5021254	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:5021254T>C	uc001qnh.2	+	2	1815	c.710T>C	c.(709-711)GTG>GCG	p.V237A		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	237	Helical; Name=Segment S2; (Potential).				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCGAGCTGGTGGTGCGCTTC	0.493												
VWF	7450	broad.mit.edu	37	12	6220099	6220099	+	Missense_Mutation	SNP	C	C	T	rs140044866	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:6220099C>T	uc001qnn.1	-	4	506	c.256G>A	c.(256-258)GTG>ATG	p.V86M	VWF_uc010set.1_Missense_Mutation_p.V86M|VWF_uc001qno.1_Missense_Mutation_p.V123M	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	86	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CCAAGATACACGGAGAGGCTC	0.358												
TNFRSF1A	7132	broad.mit.edu	37	12	6438527	6438527	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:6438527G>A	uc001qnu.2	-	10	1600	c.1319C>T	c.(1318-1320)GCG>GTG	p.A440V	TNFRSF1A_uc001qnt.2_Missense_Mutation_p.A332V|TNFRSF1A_uc010sey.1_Missense_Mutation_p.A208V|TNFRSF1A_uc010sez.1_Missense_Mutation_p.A332V|TNFRSF1A_uc009zek.2_Missense_Mutation_p.A397V	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	440	Death.|Cytoplasmic (Potential).				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			lung(2)|skin(1)	3						gccgcAAAGCGCCTCCTCGAT	0.592												
IFFO1	25900	broad.mit.edu	37	12	6658950	6658950	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:6658950T>C	uc001qpd.1	-	4	1077	c.1043A>G	c.(1042-1044)AAC>AGC	p.N348S	IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_5'Flank|IFFO1_uc001qpb.1_Missense_Mutation_p.N25S|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.N348S|IFFO1_uc001qpf.1_Missense_Mutation_p.N348S|IFFO1_uc001qoz.1_5'Flank|IFFO1_uc001qpc.1_Missense_Mutation_p.N348S|IFFO1_uc001qpg.2_5'Flank	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 2	348						intermediate filament					0						GTCCTCGCAGTTGCGCTGCTG	0.617												
NOP2	4839	broad.mit.edu	37	12	6675296	6675296	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:6675296T>C	uc001qpk.1	-	4	489	c.445A>G	c.(445-447)AAC>GAC	p.N149D	NOP2_uc009zeq.1_5'Flank|NOP2_uc001qph.1_Missense_Mutation_p.N145D|NOP2_uc001qpi.1_Missense_Mutation_p.N145D|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Missense_Mutation_p.N149D|NOP2_uc001qpm.1_Missense_Mutation_p.N149D			P46087	NOP2_HUMAN	Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120.	149					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2						TCCTCAGAGTTGGAGTCAGCT	0.493												
CHD4	1108	broad.mit.edu	37	12	6704507	6704507	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:6704507G>A	uc001qpo.2	-	14	2278	c.2114C>T	c.(2113-2115)ACA>ATA	p.T705I	CHD4_uc001qpn.2_Missense_Mutation_p.T698I|CHD4_uc001qpp.2_Missense_Mutation_p.T702I	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	705					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CACATCAACTGTTGGCGTTTC	0.478												
PTMS	5763	broad.mit.edu	37	12	6879359	6879359	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:6879359C>T	uc001qqq.2	+	4	564	c.233C>T	c.(232-234)GCG>GTG	p.A78V	MLF2_uc009zey.1_5'Flank|PTMS_uc001qqr.2_RNA|LAG3_uc001qqs.2_5'Flank|LAG3_uc001qqt.3_5'Flank|LAG3_uc001qqu.2_5'Flank	NM_002824	NP_002815	P20962	PTMS_HUMAN	parathymosin	78	Asp/Glu-rich (acidic).				DNA replication	nucleus				liver(1)	1						GAAGGGCCCGCGCTGAAGAGA	0.622												
CD163	9332	broad.mit.edu	37	12	7649477	7649477	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:7649477T>C	uc001qsz.3	-	5	1159	c.1031A>G	c.(1030-1032)CAA>CGA	p.Q344R	CD163_uc001qta.3_Missense_Mutation_p.Q344R|CD163_uc009zfw.2_Missense_Mutation_p.Q344R	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	344	SRCR 3.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						GTGTTTACATTGCCAGATAGC	0.423												
GDF3	9573	broad.mit.edu	37	12	7843257	7843257	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:7843257G>A	uc001qte.2	-	2	348	c.312C>T	c.(310-312)TGC>TGT	p.C104C		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	growth differentiation factor 3 precursor	104					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						GCTTCTGCAGGCAGGAGGAAG	0.443												
CLEC4A	50856	broad.mit.edu	37	12	8290783	8290783	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:8290783T>C	uc001qtz.1	+	6	861	c.614T>C	c.(613-615)GTG>GCG	p.V205A	CLEC4A_uc009zga.1_Missense_Mutation_p.V166A|CLEC4A_uc001qub.1_Missense_Mutation_p.V172A|CLEC4A_uc001quc.1_Missense_Mutation_p.V133A|CLEC4A_uc009zgb.1_3'UTR	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A isoform	205	Extracellular (Potential).|C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0				Kidney(36;0.0915)		CGCTGCGTTGTGCTAAATTTT	0.438												
A2M	2	broad.mit.edu	37	12	9229987	9229987	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:9229987G>A	uc001qvk.1	-	27	3419	c.3306C>T	c.(3304-3306)TCC>TCT	p.S1102S	A2M_uc001qvj.1_Silent_p.S144S|A2M_uc009zgk.1_Silent_p.S952S	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1102					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TGATATAGGCGGAGAGGGTCA	0.453												
A2M	2	broad.mit.edu	37	12	9264788	9264788	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:9264788G>T	uc001qvk.1	-	4	563	c.450C>A	c.(448-450)TCC>TCA	p.S150S	A2M_uc009zgk.1_5'UTR	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	150					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TTTCATCCATGGAGACAACAC	0.398												
CD69	969	broad.mit.edu	37	12	9907755	9907755	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:9907755T>C	uc001qwk.2	-	3	371	c.290A>G	c.(289-291)TAC>TGC	p.Y97C	CD69_uc010sgu.1_Missense_Mutation_p.Y97C|CD69_uc010sgv.1_Missense_Mutation_p.Y97C	NM_001781	NP_001772	Q07108	CD69_HUMAN	CD69 molecule	97	C-type lectin.|Extracellular (Potential).					integral to plasma membrane	sugar binding|transmembrane receptor activity				0						AGAAATAAAGTAGCATTTCCT	0.448												
TAS2R20	259295	broad.mit.edu	37	12	11149590	11149590	+	Nonsense_Mutation	SNP	C	C	T	rs137857369		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:11149590C>T	uc001qzm.2	-	1	885	c.885G>A	c.(883-885)TGG>TGA	p.W295*	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176889	NP_795370	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	295	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity				0						AAGTCACCTGCCACAAAACTG	0.423												
PRB3	5544	broad.mit.edu	37	12	11421601	11421601	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:11421601A>G	uc001qzs.2	-	2	104	c.66T>C	c.(64-66)GAT>GAC	p.D22D	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	22						extracellular region	Gram-negative bacterial cell surface binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CCTGGCTGACATCTAGAAGAG	0.428												
PRB1	5542	broad.mit.edu	37	12	11506273	11506273	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:11506273G>A	uc001qzw.1	-	4	801	c.764C>T	c.(763-765)CCA>CTA	p.P255L	PRB1_uc001qzu.1_Missense_Mutation_p.P122L|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1 isoform 1	316	13.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in clone CP-5).			extracellular region					0			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCCTGGAGGTGGGGGACCTTG	0.612												
MANSC1	54682	broad.mit.edu	37	12	12483571	12483571	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:12483571G>A	uc001rai.1	-	4	944	c.686C>T	c.(685-687)ACG>ATG	p.T229M	MANSC1_uc010shm.1_Missense_Mutation_p.T163M|MANSC1_uc001raj.1_Missense_Mutation_p.T195M|MANSC1_uc009zht.1_Missense_Mutation_p.T148M	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	MANSC domain containing 1 precursor	229	Extracellular (Potential).					integral to membrane					0		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AACTGCCACCGTAGCTGGGAG	0.507												
APOLD1	81575	broad.mit.edu	37	12	12940507	12940507	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:12940507G>A	uc001rau.3	+	2	845	c.761G>A	c.(760-762)CGG>CAG	p.R254Q	DDX47_uc001rav.2_Intron|APOLD1_uc001raw.3_Missense_Mutation_p.R223Q	NM_001130415	NP_001123887	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1 isoform 1	254					angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process	extracellular region|integral to membrane|plasma membrane	lipid binding			ovary(1)	1		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		CTGGAGTCTCGGGTTCAGCTC	0.587												
GRIN2B	2904	broad.mit.edu	37	12	13717534	13717534	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:13717534G>A	uc001rbt.2	-	13	2817	c.2638C>T	c.(2638-2640)CGC>TGC	p.R880C		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	880	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACAGACTGGCGCTCCTCGATC	0.537												
C12orf60	144608	broad.mit.edu	37	12	14976431	14976431	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:14976431T>C	uc001rcj.3	+	2	766	c.562T>C	c.(562-564)TTG>CTG	p.L188L		NM_175874	NP_787070	Q5U649	CL060_HUMAN	hypothetical protein LOC144608	188										ovary(1)|central_nervous_system(1)	2						GATAGACACCTTGAAAAAACT	0.413												
PTPRO	5800	broad.mit.edu	37	12	15704534	15704534	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:15704534T>C	uc001rcv.1	+	15	2661	c.2487T>C	c.(2485-2487)CTT>CTC	p.L829L	PTPRO_uc001rcw.1_Silent_p.L829L|PTPRO_uc001rcx.1_Silent_p.L18L|PTPRO_uc001rcy.1_Silent_p.L18L|PTPRO_uc001rcz.1_Silent_p.L18L|PTPRO_uc001rda.1_Silent_p.L18L	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	829	Helical; (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				TGGCCATCCTTAGCACACTTT	0.383												
MGST1	4257	broad.mit.edu	37	12	16516861	16516861	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:16516861C>A	uc001rdf.2	+	4	419	c.354C>A	c.(352-354)ACC>ACA	p.T118T	MGST1_uc001rdg.2_Silent_p.T118T|MGST1_uc009zih.1_Intron|MGST1_uc001rdh.2_Silent_p.T118T|MGST1_uc001rdi.2_Silent_p.T118T	NM_145792	NP_665735	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	118	Helical; (By similarity).				protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity				0		Hepatocellular(102;0.121)			Glutathione(DB00143)	TCTACCACACCATTGCATATT	0.463												
ETNK1	55500	broad.mit.edu	37	12	22826494	22826494	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:22826494G>A	uc001rft.2	+	6	1134	c.1112G>A	c.(1111-1113)CGT>CAT	p.R371H	ETNK1_uc009ziz.2_Missense_Mutation_p.R371H	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1 isoform A	371					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity				0						CAGTGGCTGCGTGCTTACCTT	0.368												
ITPR2	3709	broad.mit.edu	37	12	26639255	26639255	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:26639255C>A	uc001rhg.2	-	41	6010	c.5593G>T	c.(5593-5595)GGG>TGG	p.G1865W	ITPR2_uc009zjg.1_Missense_Mutation_p.G16W	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1865	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					GTTAATTGCCCTTTCATTCCC	0.328												
STK38L	23012	broad.mit.edu	37	12	27467586	27467586	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:27467586G>A	uc001rhr.2	+	7	866	c.667G>A	c.(667-669)GCC>ACC	p.A223T	STK38L_uc001rhs.2_RNA|STK38L_uc010sjm.1_Missense_Mutation_p.A130T|STK38L_uc010sjn.1_5'UTR|STK38L_uc010sjo.1_5'Flank	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	223	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1)	5	Colorectal(261;0.0847)					TTTATTGGATGCCAAGGCATG	0.398												
FAR2	55711	broad.mit.edu	37	12	29474809	29474809	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:29474809G>A	uc001ris.3	+	10	1356	c.1209G>A	c.(1207-1209)ACG>ACA	p.T403T	FAR2_uc001rit.2_Silent_p.T403T|FAR2_uc009zjm.2_Silent_p.T306T	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	403					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0						AATGGAGCACGTACAATACAG	0.423												
ERGIC2	51290	broad.mit.edu	37	12	29524560	29524560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:29524560G>A	uc001riv.2	-	2	140	c.7C>T	c.(7-9)CGA>TGA	p.R3*	ERGIC2_uc001riw.2_RNA	NM_016570	NP_057654	Q96RQ1	ERGI2_HUMAN	PTX1 protein	3	Cytoplasmic (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				ovary(1)	1	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	CGATTCAGTCGCCTCATCTTC	0.373												
OVCH1	341350	broad.mit.edu	37	12	29617462	29617462	+	Silent	SNP	G	G	A	rs117919494	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:29617462G>A	uc001rix.1	-	18	2103	c.2103C>T	c.(2101-2103)ACC>ACT	p.T701T		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	701	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTCCCCATCCGGTCACAGCAC	0.443												
C12orf35	55196	broad.mit.edu	37	12	32137913	32137913	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:32137913C>T	uc001rks.2	+	4	4438	c.4024C>T	c.(4024-4026)CCA>TCA	p.P1342S	C12orf35_uc001rkt.2_5'Flank	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	1342										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			AGCTTTTTTGCCAAATAAAGA	0.343												
BICD1	636	broad.mit.edu	37	12	32490722	32490722	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:32490722C>T	uc001rku.2	+	7	2623	c.2542C>T	c.(2542-2544)CGG>TGG	p.R848W	BICD1_uc001rkv.2_Intron|BICD1_uc010skd.1_Intron|BICD1_uc001rkw.1_Missense_Mutation_p.R130W	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	848					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ACCCAACATTCGGGTCAGCAG	0.507												
DNM1L	10059	broad.mit.edu	37	12	32866233	32866233	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:32866233G>A	uc001rld.2	+	6	708	c.547G>A	c.(547-549)GCT>ACT	p.A183T	DNM1L_uc010skf.1_Intron|DNM1L_uc010skg.1_RNA|DNM1L_uc001rle.2_Missense_Mutation_p.A183T|DNM1L_uc001rlf.2_Missense_Mutation_p.A183T|DNM1L_uc010skh.1_Missense_Mutation_p.A249T|DNM1L_uc001rlg.2_Missense_Mutation_p.A249T|DNM1L_uc001rlh.2_Missense_Mutation_p.A236T|DNM1L_uc010ski.1_Intron	NM_012062	NP_036192	O00429	DNM1L_HUMAN	dynamin 1-like isoform 1	183	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CATTATCCTCGCTGTCACTGC	0.393												
LRRK2	120892	broad.mit.edu	37	12	40653408	40653408	+	Splice_Site	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:40653408T>C	uc001rmg.3	+	13	1664	c.1543_splice	c.e13+2	p.G515_splice	LRRK2_uc001rmh.1_Splice_Site_p.G137_splice	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAGTGCCTGGTAAGTTACATA	0.348												
LRRK2	120892	broad.mit.edu	37	12	40699624	40699624	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:40699624C>T	uc001rmg.3	+	28	3936	c.3815C>T	c.(3814-3816)TCT>TTT	p.S1272F	LRRK2_uc009zjw.2_Missense_Mutation_p.S110F|LRRK2_uc001rmi.2_Missense_Mutation_p.S105F	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1272	LRR 12.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AATCTGACATCTCTGGATGTC	0.398												
CNTN1	1272	broad.mit.edu	37	12	41312552	41312552	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:41312552C>T	uc001rmm.1	+	4	319	c.206C>T	c.(205-207)GCC>GTC	p.A69V	CNTN1_uc009zjy.1_Missense_Mutation_p.A69V|CNTN1_uc001rmn.1_Missense_Mutation_p.A58V|CNTN1_uc001rmo.2_Missense_Mutation_p.A69V	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	69	Ig-like C2-type 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGGGCACGAGCCAGCCCTTTC	0.433												
PRICKLE1	144165	broad.mit.edu	37	12	42853839	42853839	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:42853839G>A	uc010skv.1	-	8	2555	c.2268C>T	c.(2266-2268)GGC>GGT	p.G756G	PRICKLE1_uc001rnl.2_Silent_p.G756G|PRICKLE1_uc010skw.1_Silent_p.G756G|PRICKLE1_uc001rnm.2_Silent_p.G756G|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	756					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CATCATCCTCGCCGTAGAGTC	0.517												
NELL2	4753	broad.mit.edu	37	12	44915860	44915860	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:44915860A>G	uc001rog.2	-	18	2693	c.2098T>C	c.(2098-2100)TGC>CGC	p.C700R	NELL2_uc001rof.3_Missense_Mutation_p.C699R|NELL2_uc001roh.2_Missense_Mutation_p.C700R|NELL2_uc009zkd.2_Missense_Mutation_p.C652R|NELL2_uc010skz.1_Missense_Mutation_p.C750R|NELL2_uc010sla.1_Missense_Mutation_p.C723R	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	700	VWFC 4.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGATGGAGGCACTGACTACTA	0.463												
SFRS2IP	9169	broad.mit.edu	37	12	46321969	46321969	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:46321969C>T	uc001rox.2	-	11	1802	c.1515G>A	c.(1513-1515)TTG>TTA	p.L505L	SFRS2IP_uc001row.2_Silent_p.L190L|SFRS2IP_uc001roy.1_Silent_p.L579L	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	505					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		TTTCCAAACACAAAACATTAG	0.388												
CCNT1	904	broad.mit.edu	37	12	49089559	49089559	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:49089559G>A	uc001rse.1	-	8	1083	c.760C>T	c.(760-762)CGC>TGC	p.R254C	CCNT1_uc009zkz.1_Translation_Start_Site	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	254	Nuclear localization signal, and interaction with Tat-TAR RNA (Potential).				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			ovary(3)|lung(1)|breast(1)|skin(1)	6						TTCCAAATGCGTTTGAGCCTG	0.368												
MLL2	8085	broad.mit.edu	37	12	49416123	49416123	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:49416123T>C	uc001rta.3	-	52	16352	c.16352A>G	c.(16351-16353)TAC>TGC	p.Y5451C		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5451	SET.	S-adenosyl-L-methionine (By similarity).			chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TCGGAACATGTAGATGCCTCG	0.517			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
MLL2	8085	broad.mit.edu	37	12	49420024	49420024	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:49420024A>G	uc001rta.3	-	48	15725	c.15725T>C	c.(15724-15726)GTA>GCA	p.V5242A		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5242	FYR C-terminal.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GACTTTGATTACAAACTCCGG	0.562			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
KCNH3	23416	broad.mit.edu	37	12	49933274	49933274	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:49933274G>A	uc001ruh.1	+	1	335	c.75G>A	c.(73-75)ACG>ACA	p.T25T	KCNH3_uc010smj.1_5'UTR	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	25	Cytoplasmic (Potential).|PAS.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						TCGACGGCACGCGTGAGTCCG	0.741												
MCRS1	10445	broad.mit.edu	37	12	49953005	49953005	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:49953005C>T	uc001ruk.1	-	13	1357	c.1166G>A	c.(1165-1167)CGG>CAG	p.R389Q	MCRS1_uc001rui.1_Missense_Mutation_p.R402Q|MCRS1_uc001ruj.1_Missense_Mutation_p.R376Q|MCRS1_uc001rul.1_Missense_Mutation_p.R389Q|MCRS1_uc009zlj.1_Missense_Mutation_p.R198Q|MCRS1_uc001rum.1_Missense_Mutation_p.R376Q	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 1	389	FHA.				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1						ACCTTGTTTCCGGGATATCTT	0.597												
FAM186B	84070	broad.mit.edu	37	12	49994809	49994809	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:49994809A>G	uc001ruo.2	-	4	787	c.614T>C	c.(613-615)ATG>ACG	p.M205T	FAM186B_uc010smk.1_Missense_Mutation_p.M115T	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	hypothetical protein LOC84070	205						protein complex				ovary(1)	1						CTTCGTGTTCATGGTATGCTG	0.592												
DIP2B	57609	broad.mit.edu	37	12	51122352	51122352	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:51122352G>A	uc001rwv.2	+	30	3688	c.3532G>A	c.(3532-3534)GCT>ACT	p.A1178T	DIP2B_uc009zlt.2_Missense_Mutation_p.A608T	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	1178						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						TGCAGTGAACGCTCTGTGTCG	0.532												
SCN8A	6334	broad.mit.edu	37	12	52100214	52100214	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:52100214G>A	uc001ryw.2	+	11	1528	c.1350G>A	c.(1348-1350)GCG>GCA	p.A450A	SCN8A_uc010snl.1_Silent_p.A315A|SCN8A_uc001ryx.1_Silent_p.A315A|SCN8A_uc001ryz.1_Silent_p.A315A|SCN8A_uc001ryy.2_Silent_p.A315A	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	450					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGGCTGCTGCGATGGCCACTT	0.522												
SCN8A	6334	broad.mit.edu	37	12	52115620	52115620	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:52115620G>A	uc001ryw.2	+	12	2104	c.1926G>A	c.(1924-1926)ACG>ACA	p.T642T	SCN8A_uc010snl.1_Silent_p.T507T|SCN8A_uc001ryx.1_Silent_p.T507T|SCN8A_uc001ryz.1_Silent_p.T507T|SCN8A_uc001ryy.2_Silent_p.T507T	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	642					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GCAACAGCACGGTGGACTGCA	0.587												
KRT84	3890	broad.mit.edu	37	12	52776272	52776272	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:52776272G>A	uc001sah.1	-	4	909	c.861C>T	c.(859-861)AAC>AAT	p.N287N		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	287	Rod.|Coil 1B.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGTATCCACGTTGGCCTCGA	0.463												
KRT75	9119	broad.mit.edu	37	12	52818457	52818457	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:52818457G>A	uc001saj.2	-	9	1522	c.1500C>T	c.(1498-1500)AGC>AGT	p.S500S		NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75	500	Tail.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.192)		AGGAGTAGCCGCTGCCCCCAC	0.627												
KRT5	3852	broad.mit.edu	37	12	52911681	52911681	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:52911681C>T	uc001san.2	-	4	1090	c.927G>A	c.(925-927)GCG>GCA	p.A309A	KRT5_uc009zmh.2_Silent_p.A309A	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	309	Rod.|Coil 1B.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGTTTCTTACCGCATCAAAGA	0.388												
SPRYD3	84926	broad.mit.edu	37	12	53462055	53462055	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:53462055C>T	uc001sbt.1	-	7	748	c.727G>A	c.(727-729)GTG>ATG	p.V243M	SPRYD3_uc010snw.1_Missense_Mutation_p.V69M	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	243										central_nervous_system(1)	1						CCCACATCCACGATGCTTTTG	0.627												
AAAS	8086	broad.mit.edu	37	12	53702980	53702980	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:53702980C>T	uc001scr.3	-	9	1059	c.896G>A	c.(895-897)GGC>GAC	p.G299D	AAAS_uc001scs.3_Missense_Mutation_p.G266D	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency,	299	WD 4.				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1						GATTTTGCTGCCGTCTGGGGA	0.582												
PCBP2	5094	broad.mit.edu	37	12	53849156	53849156	+	Splice_Site	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:53849156T>C	uc001sdl.3	+	3	443	c.93_splice	c.e3+2	p.K31_splice	PCBP2_uc001sdc.3_Splice_Site_p.K31_splice|PCBP2_uc001sdb.3_Splice_Site_p.K31_splice|PCBP2_uc001sde.3_Splice_Site_p.K31_splice|PCBP2_uc001sdi.3_Splice_Site_p.K31_splice|PCBP2_uc001sdd.3_Splice_Site_p.K31_splice|PCBP2_uc001sdf.3_Splice_Site_p.K31_splice|PCBP2_uc009zna.2_Splice_Site_p.K31_splice|PCBP2_uc010soh.1_Splice_Site_p.K31_splice|PCBP2_uc009zmz.1_Intron	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2 isoform d						innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding				0						ATCGGAAAGGTAAGACAATTT	0.343												
ATP5G2	517	broad.mit.edu	37	12	54070026	54070026	+	Translation_Start_Site	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:54070026C>A	uc009znc.2	-	1	487	c.-214G>T	c.(-216--212)CAGGT>CATGT		ATP5G2_uc001sec.2_Translation_Start_Site|ATP5G2_uc001sed.2_Translation_Start_Site	NM_001002031	NP_001002031	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial F0						ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			ovary(1)	1						GTTGCTCCACCTGGCGTTCGA	0.602											OREG0021876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NCKAP1L	3071	broad.mit.edu	37	12	54913106	54913106	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:54913106T>C	uc001sgc.3	+	16	1694	c.1615T>C	c.(1615-1617)TCT>CCT	p.S539P	NCKAP1L_uc010sox.1_Missense_Mutation_p.S81P|NCKAP1L_uc010soy.1_Missense_Mutation_p.S489P	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	539					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						TTCTGATCTGTCTACTTTCTG	0.388												
OR6C74	254783	broad.mit.edu	37	12	55641456	55641456	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:55641456C>T	uc010spg.1	+	1	385	c.385C>T	c.(385-387)CAT>TAT	p.H129Y		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						CAAACCCCTGCATTACACCAC	0.488												
OR6C74	254783	broad.mit.edu	37	12	55641521	55641521	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:55641521C>T	uc010spg.1	+	1	450	c.450C>T	c.(448-450)GGC>GGT	p.G150G		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						GGATGGCTGGCTTCCTAATAA	0.483												
ITGA7	3679	broad.mit.edu	37	12	56101281	56101281	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:56101281C>T	uc001shh.2	-	1	406	c.186G>A	c.(184-186)TTG>TTA	p.L62L	ITGA7_uc001shg.2_Silent_p.L62L|ITGA7_uc010sps.1_Intron	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	62	FG-GAP 1.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						GTCGGGGCTGCAACTGCCGGT	0.667												
SMARCC2	6601	broad.mit.edu	37	12	56565655	56565655	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:56565655C>T	uc001skb.2	-	20	2006	c.1900G>A	c.(1900-1902)GAG>AAG	p.E634K	SMARCC2_uc001skd.2_Missense_Mutation_p.E665K|SMARCC2_uc001ska.2_Missense_Mutation_p.E665K|SMARCC2_uc001skc.2_Missense_Mutation_p.E664K|SMARCC2_uc010sqf.1_Missense_Mutation_p.E554K	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	634	SANT.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AAGATGCACTCGTCCTGTGTG	0.542												
TIMELESS	8914	broad.mit.edu	37	12	56817451	56817451	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:56817451T>C	uc001slf.2	-	17	2175	c.2007A>G	c.(2005-2007)GAA>GAG	p.E669E		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	669	Glu-rich.				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						cctcctcctcttcttcttcct	0.418												
LRP1	4035	broad.mit.edu	37	12	57537507	57537507	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:57537507T>C	uc001snd.2	+	4	840	c.374T>C	c.(373-375)GTC>GCC	p.V125A	LRP1_uc010sre.1_Missense_Mutation_p.V125A|LRP1_uc001snb.2_Missense_Mutation_p.V125A|LRP1_uc001snc.1_Missense_Mutation_p.V125A	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	125	EGF-like 1.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACCATTGTGTCCCCACACTC	0.592												
LRP1	4035	broad.mit.edu	37	12	57539115	57539115	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:57539115G>A	uc001snd.2	+	6	1149	c.683G>A	c.(682-684)CGG>CAG	p.R228Q	LRP1_uc010sre.1_Missense_Mutation_p.R228Q|LRP1_uc001snb.2_Missense_Mutation_p.R228Q|LRP1_uc001snc.1_Missense_Mutation_p.R228Q	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	228	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACGAGCACGCGGCAGACCACA	0.597												
AGAP2	116986	broad.mit.edu	37	12	58126703	58126703	+	Missense_Mutation	SNP	C	C	T	rs141167177		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:58126703C>T	uc001spq.2	-	6	1609	c.1609G>A	c.(1609-1611)GCG>ACG	p.A537T	AGAP2_uc001spp.2_Missense_Mutation_p.A537T|AGAP2_uc001spr.2_Missense_Mutation_p.A201T	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	537	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5						TTCATGTCCGCGCACAGAGCT	0.567												
MSRB3	253827	broad.mit.edu	37	12	65857048	65857048	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:65857048C>T	uc001ssn.2	+	6	586	c.525C>T	c.(523-525)GCC>GCT	p.A175A	MSRB3_uc001ssm.2_Silent_p.A168A|MSRB3_uc009zqp.2_Silent_p.A168A	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3 isoform 1	175					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GTGGCACCGCCGAGGGAGGCA	0.527												
MDM1	56890	broad.mit.edu	37	12	68696460	68696460	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:68696460A>G	uc001stz.2	-	12	2048	c.1912T>C	c.(1912-1914)TAC>CAC	p.Y638H	MDM1_uc010stc.1_Missense_Mutation_p.Y603H|MDM1_uc009zqv.1_Missense_Mutation_p.Y358H	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	mouse Mdm1 nuclear protein homolog isoform 1	638						nucleus				ovary(3)|skin(2)	5			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GGATGCCAGTAGGATGGAACA	0.393												
CPSF6	11052	broad.mit.edu	37	12	69653833	69653833	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:69653833G>C	uc001sut.3	+	8	1435	c.1325G>C	c.(1324-1326)GGG>GCG	p.G442A	CPSF6_uc001suu.3_Missense_Mutation_p.G479A|CPSF6_uc010stk.1_Missense_Mutation_p.G73A	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6,	442					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GGTGATTATGGGAGTGCTATT	0.328												
BEST3	144453	broad.mit.edu	37	12	70066743	70066743	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:70066743T>C	uc001svg.2	-	8	1097	c.870A>G	c.(868-870)GTA>GTG	p.V290V	BEST3_uc001svd.1_Silent_p.V290V|BEST3_uc001sve.1_RNA|BEST3_uc001svf.2_Silent_p.V77V|BEST3_uc010stm.1_Silent_p.V184V|BEST3_uc001svh.2_Silent_p.V77V	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	290	Helical; (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GCTGCTCTGCTACCTGTAGTT	0.219												
LGR5	8549	broad.mit.edu	37	12	71898439	71898439	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:71898439G>A	uc001swl.2	+	2	306	c.258G>A	c.(256-258)CTG>CTA	p.L86L	LGR5_uc001swm.2_Silent_p.L86L|LGR5_uc001swn.1_RNA	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	86	LRR 1.|Extracellular (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						CGAATCCCCTGCCCAGTCTCC	0.502												
LGR5	8549	broad.mit.edu	37	12	71977878	71977878	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:71977878C>T	uc001swl.2	+	18	2136	c.2088C>T	c.(2086-2088)GCC>GCT	p.A696A	LGR5_uc001swm.2_Silent_p.A672A|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	696	Helical; Name=4; (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						TGACCATGGCCGCAGTTCCCC	0.532												
ZFC3H1	196441	broad.mit.edu	37	12	72013159	72013159	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:72013159G>A	uc001swo.2	-	27	5439	c.5080C>T	c.(5080-5082)CGG>TGG	p.R1694W		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1694					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						ATAAATTTCCGCAAAAATGGA	0.353												
CEP290	80184	broad.mit.edu	37	12	88505561	88505561	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:88505561G>A	uc001tar.2	-	21	2471	c.2127C>T	c.(2125-2127)ACC>ACT	p.T709T	CEP290_uc001tat.2_Silent_p.T502T|CEP290_uc009zsl.1_RNA	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	709	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						CATTTCTTCCGGTAAGCTGAT	0.358												
DCN	1634	broad.mit.edu	37	12	91539866	91539866	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:91539866C>T	uc001tbs.2	-	7	1143	c.1049G>A	c.(1048-1050)CGC>CAC	p.R350H	DCN_uc001tbo.2_Missense_Mutation_p.R241H|DCN_uc001tbp.2_Missense_Mutation_p.R203H|DCN_uc001tbq.2_Missense_Mutation_p.R163H|DCN_uc001tbr.2_3'UTR|DCN_uc001tbt.2_Missense_Mutation_p.R350H|DCN_uc001tbu.2_Missense_Mutation_p.R350H	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	350	LRR 12.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4						AATGGCAGAGCGCACGTAGAC	0.408												
BTG1	694	broad.mit.edu	37	12	92539222	92539222	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:92539222C>T	uc001tby.3	-	1	452	c.90G>A	c.(88-90)GGG>GGA	p.G30G	BTG1_uc001tbv.1_5'Flank|BTG1_uc001tbw.1_5'Flank|BTG1_uc001tbx.1_5'Flank|BTG1_uc009zss.1_5'Flank|uc001tca.2_5'Flank	NM_001731	NP_001722	P62324	BTG1_HUMAN	B-cell translocation protein 1	30					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity				0		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CGCTCGTGAGCCCCTTGGTGC	0.627			T	MYC	BCLL							
TMCC3	57458	broad.mit.edu	37	12	94976202	94976202	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:94976202A>G	uc001tdj.2	-	2	309	c.191T>C	c.(190-192)GTC>GCC	p.V64A	TMCC3_uc001tdi.2_Missense_Mutation_p.V33A	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	64						integral to membrane				ovary(1)|skin(1)	2						AGTGAGTTTGACCTTGTGGAA	0.488												
USP44	84101	broad.mit.edu	37	12	95918558	95918558	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:95918558C>T	uc001teg.2	-	4	1775	c.1631G>A	c.(1630-1632)CGT>CAT	p.R544H	USP44_uc001teh.2_Missense_Mutation_p.R544H|USP44_uc009zte.2_Missense_Mutation_p.R541H	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN	ubiquitin thiolesterase 44	544					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)|breast(1)|central_nervous_system(1)	3						AAACCTTCTACGCTTTGCTGT	0.368												
AMDHD1	144193	broad.mit.edu	37	12	96361564	96361564	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:96361564C>T	uc001tel.1	+	9	1330	c.1224C>T	c.(1222-1224)GGC>GGT	p.G408G	AMDHD1_uc009zth.1_Silent_p.G299G	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	408					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)	1						AGTTCGGAGGCCATCATGAAT	0.264												
LTA4H	4048	broad.mit.edu	37	12	96429215	96429215	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:96429215A>C	uc001ten.1	-	1	151	c.83T>G	c.(82-84)GTC>GGC	p.V28G	LTA4H_uc010suy.1_Intron|LTA4H_uc010suz.1_Intron|LTA4H_uc010sva.1_RNA	NM_000895	NP_000886	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	28					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)	1						AGTAAAGTCGACGCTGCAGCG	0.642												
ANKS1B	56899	broad.mit.edu	37	12	99638168	99638168	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:99638168C>A	uc001tge.1	-	14	2788	c.2371G>T	c.(2371-2373)GAT>TAT	p.D791Y	ANKS1B_uc001tgf.1_Missense_Mutation_p.D371Y|ANKS1B_uc001tgk.2_Missense_Mutation_p.D88Y	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	791						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ATTCCAACATCTATGGAACTC	0.299												
ANO4	121601	broad.mit.edu	37	12	101433764	101433764	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:101433764C>T	uc010svm.1	+	11	1501	c.929C>T	c.(928-930)ACC>ATC	p.T310I	ANO4_uc001thw.2_Missense_Mutation_p.T275I|ANO4_uc001thx.2_Missense_Mutation_p.T310I	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	310	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						TCCATTCGAACCCATGGAGCA	0.443										HNSCC(74;0.22)		
CHST11	50515	broad.mit.edu	37	12	105151236	105151236	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:105151236G>T	uc001tkx.1	+	4	1005	c.714G>T	c.(712-714)GAG>GAT	p.E238D	CHST11_uc001tky.2_Missense_Mutation_p.E233D|uc001tkz.2_5'Flank	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	carbohydrate sulfotransferase 11	238	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity				0						TCAAATTCGAGGAGTTTGTGG	0.572												
TCP11L2	255394	broad.mit.edu	37	12	106708177	106708177	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:106708177G>C	uc001tln.2	+	3	373	c.199G>C	c.(199-201)GCT>CCT	p.A67P	TCP11L2_uc001tll.2_Missense_Mutation_p.A67P|TCP11L2_uc001tlm.2_Missense_Mutation_p.A67P	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	67										ovary(3)	3						TGAAGTGATGGCTACAGCAAG	0.403												
PWP1	11137	broad.mit.edu	37	12	108091273	108091273	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:108091273C>A	uc001tmo.1	+	7	730	c.643C>A	c.(643-645)CCT>ACT	p.P215T	PWP1_uc001tmn.1_RNA|PWP1_uc009zuu.1_Missense_Mutation_p.P215T	NM_007062	NP_008993	Q13610	PWP1_HUMAN	periodic tryptophan protein 1	215	WD 1.				transcription, DNA-dependent	nucleus					0						AAACATGACCCCTGTTATTGA	0.348												
ALKBH2	121642	broad.mit.edu	37	12	109527862	109527862	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:109527862T>C	uc001tnx.2	-	3	824	c.431A>G	c.(430-432)CAC>CGC	p.H144R	ALKBH2_uc001tny.2_Missense_Mutation_p.H144R|ALKBH2_uc010sxj.1_Missense_Mutation_p.H144R|ALKBH2_uc009zvd.2_Intron|ALKBH2_uc010sxk.1_Intron	NM_001145374	NP_001138846	Q6NS38	ALKB2_HUMAN	AlkB homolog 2	144					DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)	CCCAGAGACGTGATCCCGGAT	0.527								Direct_reversal_of_damage				
UBE3B	89910	broad.mit.edu	37	12	109940840	109940840	+	Missense_Mutation	SNP	G	G	A	rs141849006		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:109940840G>A	uc001top.2	+	14	1898	c.1295G>A	c.(1294-1296)CGT>CAT	p.R432H	UBE3B_uc001toq.2_Missense_Mutation_p.R432H|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.R432H	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	432					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						CTCCTAAAGCGTGCTTTTCAA	0.507												
C12orf34	84915	broad.mit.edu	37	12	110206268	110206268	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:110206268C>T	uc001tpd.1	+	3	1093	c.534C>T	c.(532-534)GCC>GCT	p.A178A	MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Silent_p.A178A	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	hypothetical protein LOC84915	178	Pro-rich.									ovary(1)	1						CCGCCACTGCCGCCTCCGTCA	0.711												
ANKRD13A	88455	broad.mit.edu	37	12	110461861	110461861	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:110461861G>A	uc001tpx.2	+	7	1004	c.745G>A	c.(745-747)GGA>AGA	p.G249R	ANKRD13A_uc009zvl.1_Intron|ANKRD13A_uc010sxw.1_Missense_Mutation_p.G249R|ANKRD13A_uc001tpy.2_5'Flank	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	249											0						AACTAAATCCGGATTCTGGGG	0.348												
CUX2	23316	broad.mit.edu	37	12	111701597	111701597	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:111701597G>A	uc001tsa.1	+	4	408	c.255G>A	c.(253-255)GCG>GCA	p.A85A	CUX2_uc001tsb.1_Silent_p.A140A	NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	85						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GTCAGGAGGCGGAGGCTGCTT	0.428												
CUX2	23316	broad.mit.edu	37	12	111731284	111731284	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:111731284G>A	uc001tsa.1	+	6	624	c.471G>A	c.(469-471)ACG>ACA	p.T157T	CUX2_uc001tsb.1_Silent_p.T212T	NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	157						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CCGGGCCCACGCTGACCGAGG	0.562												
CUX2	23316	broad.mit.edu	37	12	111758570	111758570	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:111758570C>T	uc001tsa.1	+	17	2910	c.2757C>T	c.(2755-2757)TTC>TTT	p.F919F		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	919	CUT 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						AGAGGATCTTCGGGGAGAAGG	0.627												
ACAD10	80724	broad.mit.edu	37	12	112182702	112182702	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:112182702A>G	uc001tsq.2	+	13	2170	c.1970A>G	c.(1969-1971)GAG>GGG	p.E657G	ACAD10_uc001tsp.2_Missense_Mutation_p.E657G|ACAD10_uc009zvx.2_Missense_Mutation_p.E688G|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	657							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						ATCTCTCCAGAGAGCCTCTCT	0.587												
NAA25	80018	broad.mit.edu	37	12	112499109	112499109	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:112499109C>T	uc001ttm.2	-	12	1253	c.1233G>A	c.(1231-1233)CTG>CTA	p.L411L	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Silent_p.L383L|NAA25_uc009zwa.1_Silent_p.L411L	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	411						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						AATGTTGCTGCAGAGCTCTGA	0.438												
PTPN11	5781	broad.mit.edu	37	12	112926270	112926270	+	Missense_Mutation	SNP	C	C	T	rs121918457		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:112926270C>T	uc001ttx.2	+	12	1783	c.1403C>T	c.(1402-1404)ACG>ATG	p.T468M		NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	472	Tyrosine-protein phosphatase.		T -> M (in LEOPARD1).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						CGGACAGGGACGTTCATTGTG	0.443			Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome			
DTX1	1840	broad.mit.edu	37	12	113534522	113534522	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:113534522G>A	uc001tuk.1	+	9	1977	c.1641G>A	c.(1639-1641)GTG>GTA	p.V547V		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	547					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						CCCCCCAGGTGCTGCGGCTGC	0.647												
RASAL1	8437	broad.mit.edu	37	12	113541993	113541993	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:113541993C>T	uc001tum.1	-	18	2231	c.1938G>A	c.(1936-1938)GCG>GCA	p.A646A	RASAL1_uc010syp.1_Silent_p.A647A|RASAL1_uc001tul.2_Silent_p.A618A|RASAL1_uc001tun.1_Silent_p.A648A|RASAL1_uc010syq.1_Silent_p.A647A|RASAL1_uc001tuo.3_Silent_p.A647A	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	646	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(2)	4						TGGTGTGCAGCGCCCCCGTGC	0.706												
RASAL1	8437	broad.mit.edu	37	12	113557016	113557016	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:113557016G>A	uc001tum.1	-	8	852	c.559C>T	c.(559-561)CGG>TGG	p.R187W	RASAL1_uc010syp.1_Missense_Mutation_p.R187W|RASAL1_uc001tul.2_Missense_Mutation_p.R187W|RASAL1_uc001tun.1_Missense_Mutation_p.R187W|RASAL1_uc010syq.1_Missense_Mutation_p.R187W|RASAL1_uc001tuo.3_Missense_Mutation_p.R187W|RASAL1_uc010syr.1_Missense_Mutation_p.R187W	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	187	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(2)	4						GGCATCTCCCGCAGCTCCAGC	0.607												
NOS1	4842	broad.mit.edu	37	12	117665430	117665430	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:117665430T>C	uc001twm.1	-	23	4108	c.3422A>G	c.(3421-3423)GAG>GGG	p.E1141G		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1141	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTTCCATTCCTCGTACTCCTG	0.582												
CIT	11113	broad.mit.edu	37	12	120159173	120159173	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:120159173G>A	uc001txi.1	-	28	3600	c.3547C>T	c.(3547-3549)CGG>TGG	p.R1183W	CIT_uc001txh.1_Missense_Mutation_p.R717W|CIT_uc001txj.1_Missense_Mutation_p.R1225W	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1183	Potential.|Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AGATCAGCCCGATCTAGAGCT	0.473												
RPLP0	6175	broad.mit.edu	37	12	120635184	120635184	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:120635184A>G	uc001txp.2	-	7	970	c.733T>C	c.(733-735)TAC>CAC	p.Y245H	GCN1L1_uc001txo.2_5'Flank|RPLP0_uc001txq.2_Missense_Mutation_p.Y245H|RPLP0_uc001txr.2_Missense_Mutation_p.Y183H	NM_053275	NP_444505	P05388	RLA0_HUMAN	ribosomal protein P0	245					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTCGTTTGTACCCGTTGATG	0.527												
KDM2B	84678	broad.mit.edu	37	12	121958832	121958832	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:121958832C>T	uc001uat.2	-	9	1107	c.1003G>A	c.(1003-1005)GTG>ATG	p.V335M	KDM2B_uc001uas.2_Missense_Mutation_p.V304M|KDM2B_uc001uau.2_Missense_Mutation_p.V218M|KDM2B_uc001uav.3_Intron	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	335	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						TGCATGGGCACGTTAAAGCTG	0.607												
TMEM120B	144404	broad.mit.edu	37	12	122199614	122199614	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:122199614G>A	uc001ubc.3	+	6	665	c.521G>A	c.(520-522)CGG>CAG	p.R174Q	TMEM120B_uc009zxh.2_Missense_Mutation_p.R174Q	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	transmembrane protein 120B	174	Helical; (Potential).					integral to membrane					0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CTGACCATTCGGGAGAGCATT	0.572												
RHOF	54509	broad.mit.edu	37	12	122217517	122217517	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:122217517C>T	uc001ubb.2	-	5	578	c.523G>A	c.(523-525)GCC>ACC	p.A175T	TMEM120B_uc001ubc.3_3'UTR|TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_RNA	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN	ras homolog gene family, member F precursor	175					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			ovary(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CGAAACTTGGCGGAACATTCC	0.642												
LRRC43	254050	broad.mit.edu	37	12	122667782	122667782	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:122667782G>A	uc009zxm.2	+	1	116	c.91G>A	c.(91-93)GTG>ATG	p.V31M	LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	31											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GAGCGCGGCCGTGCGCGAGCA	0.756												
B3GNT4	79369	broad.mit.edu	37	12	122691190	122691190	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:122691190T>C	uc001ubx.2	+	3	610	c.392T>C	c.(391-393)GTG>GCG	p.V131A	B3GNT4_uc001uby.2_Missense_Mutation_p.V106A	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal	131	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CCTGGTCACGTGGAGCGACGT	0.607												
MPHOSPH9	10198	broad.mit.edu	37	12	123694679	123694679	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:123694679T>A	uc001uel.2	-	4	769	c.662A>T	c.(661-663)GAT>GTT	p.D221V	MPHOSPH9_uc010tal.1_5'UTR|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_5'UTR	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	221					M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GTGGTGCATATCCTTTTCCTC	0.353												
EIF2B1	1967	broad.mit.edu	37	12	124111624	124111624	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:124111624A>G	uc001ufm.2	-	5	592	c.449T>C	c.(448-450)GTA>GCA	p.V150A	EIF2B1_uc001ufn.2_Missense_Mutation_p.V150A|EIF2B1_uc010tat.1_Missense_Mutation_p.V150A	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B,	150					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TGTGACGTATACACTAAATCG	0.493												
DNAH10	196385	broad.mit.edu	37	12	124305130	124305130	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:124305130T>C	uc001uft.3	+	23	3675	c.3650T>C	c.(3649-3651)GTA>GCA	p.V1217A		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1217	Stem (By similarity).|Potential.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTACTAGGAGTAGAGCTTTTA	0.333												
CCDC92	80212	broad.mit.edu	37	12	124422299	124422299	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:124422299T>C	uc001ufw.1	-	5	449	c.302A>G	c.(301-303)GAA>GGA	p.E101G	CCDC92_uc001ufv.1_Missense_Mutation_p.E84G|CCDC92_uc001ufx.1_Missense_Mutation_p.E101G|CCDC92_uc001ufy.1_Missense_Mutation_p.E84G	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	101	Potential.										0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CTCAGCATTTTCGTTCTCTTT	0.453												
NCOR2	9612	broad.mit.edu	37	12	124821387	124821387	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:124821387C>T	uc010tay.1	-	40	6213	c.6057G>A	c.(6055-6057)CCG>CCA	p.P2019P	NCOR2_uc010taz.1_Silent_p.P2003P|NCOR2_uc010tax.1_Silent_p.P130P	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	2020					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CAGGTGGCGCCGGCGGGTCCG	0.667												
AACS	65985	broad.mit.edu	37	12	125613957	125613957	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:125613957C>T	uc001uhc.2	+	14	1706	c.1500C>T	c.(1498-1500)AAC>AAT	p.N500N	AACS_uc001uhd.2_Silent_p.N500N|AACS_uc009zyh.2_Intron|AACS_uc009zyi.2_Silent_p.N98N	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	500					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ACTTCTGGAACGATGAGAACG	0.547												
FZD10	11211	broad.mit.edu	37	12	130647923	130647923	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:130647923C>A	uc001uii.2	+	1	892	c.436C>A	c.(436-438)CTG>ATG	p.L146M	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	146	FZ.|Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCCCAACTACCTGTGCATGGA	0.672												
FZD10	11211	broad.mit.edu	37	12	130648780	130648780	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:130648780C>T	uc001uii.2	+	1	1749	c.1293C>T	c.(1291-1293)GGC>GGT	p.G431G	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	431	Cytoplasmic (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		AGACGGGCGGCGAGAACACGG	0.602												
RIMBP2	23504	broad.mit.edu	37	12	130935800	130935800	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:130935800C>T	uc001uil.2	-	5	557	c.393G>A	c.(391-393)CTG>CTA	p.L131L	RIMBP2_uc001uim.2_Silent_p.L39L	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	131						cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCTTGGCGGACAGAGGCTCCG	0.637												
GPR133	283383	broad.mit.edu	37	12	131466489	131466489	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:131466489C>T	uc001uit.3	+	5	930	c.371C>T	c.(370-372)GCG>GTG	p.A124V	GPR133_uc010tbm.1_Missense_Mutation_p.A156V	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	124	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A124A(1)		pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ATCCCTTCTGCGTATGGGGGA	0.507												
SFRS8	6433	broad.mit.edu	37	12	132210036	132210036	+	Missense_Mutation	SNP	G	G	T	rs151189391		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:132210036G>T	uc001uja.1	+	5	833	c.693G>T	c.(691-693)AAG>AAT	p.K231N	SFRS8_uc010tbn.1_Missense_Mutation_p.K231N|SFRS8_uc001ujb.1_Missense_Mutation_p.K24N|SFRS8_uc001uiz.1_Missense_Mutation_p.K105N	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	231	SURP motif 1.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		TCATGCTGAAGGCCAAGCAGG	0.547												
EP400	57634	broad.mit.edu	37	12	132504598	132504598	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:132504598T>C	uc001ujn.2	+	21	4317	c.4282T>C	c.(4282-4284)TTT>CTT	p.F1428L	EP400_uc001ujl.2_Missense_Mutation_p.F1427L|EP400_uc001ujm.2_Missense_Mutation_p.F1428L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1464					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ATCTAGGTTGTTTCAGCCTGT	0.637												
POLE	5426	broad.mit.edu	37	12	133219828	133219828	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:133219828G>A	uc001uks.1	-	35	4577	c.4533C>T	c.(4531-4533)TCC>TCT	p.S1511S	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Silent_p.S315S|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Silent_p.S1484S	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1511					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCACAAAGACGGATGCCCTGC	0.612								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
GOLGA3	2802	broad.mit.edu	37	12	133353594	133353594	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:133353594G>A	uc001ukz.1	-	20	4364	c.3805C>T	c.(3805-3807)CAG>TAG	p.Q1269*	GOLGA3_uc001ula.1_Nonsense_Mutation_p.Q1269*	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1269	Potential.|Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		AGCTGCTTCTGCAGGAGCTGG	0.602												
PSPC1	55269	broad.mit.edu	37	13	20315777	20315777	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:20315777C>T	uc001uml.2	-	5	1166	c.980G>A	c.(979-981)CGT>CAT	p.R327H	PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	327	Sufficient for perinucleolar caps localization and interaction with NONO.|Potential.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTCTTCTTGACGCCTCATTAG	0.333												
GJA3	2700	broad.mit.edu	37	13	20716876	20716876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:20716876C>T	uc001umx.1	-	2	724	c.552G>A	c.(550-552)TGG>TGA	p.W184*		NM_021954	NP_068773	Q9Y6H8	CXA3_HUMAN	connexin 46	184	Extracellular (Potential).				cell-cell signaling|visual perception	connexon complex|integral to membrane				pancreas(1)	1		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		TGGGGCAGGGCCAGCGGTCGC	0.602												
XPO4	64328	broad.mit.edu	37	13	21382668	21382668	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:21382668G>A	uc001unq.3	-	12	1582	c.1546C>T	c.(1546-1548)CAA>TAA	p.Q516*		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	516					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGTAACTGTTGCTGATGTCGT	0.363												
XPO4	64328	broad.mit.edu	37	13	21429891	21429891	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:21429891C>T	uc001unq.3	-	4	367	c.331G>A	c.(331-333)GTT>ATT	p.V111I	XPO4_uc010tcr.1_Missense_Mutation_p.V37I	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	111					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGTTCCCGAACATACTTTTGA	0.328												
LATS2	26524	broad.mit.edu	37	13	21562928	21562928	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:21562928G>T	uc009zzs.2	-	4	1356	c.991C>A	c.(991-993)CTG>ATG	p.L331M	LATS2_uc001unr.3_Missense_Mutation_p.L331M	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	331					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGGGAGCCCAGCACATGCAGC	0.706												
LATS2	26524	broad.mit.edu	37	13	21563168	21563168	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:21563168C>T	uc009zzs.2	-	4	1116	c.751G>A	c.(751-753)GCG>ACG	p.A251T	LATS2_uc001unr.3_Missense_Mutation_p.A251T	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	251					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCGTAGTGCGCGCCCTGCAGC	0.736												
SACS	26278	broad.mit.edu	37	13	23905041	23905041	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:23905041C>T	uc001uon.2	-	10	13563	c.12974G>A	c.(12973-12975)CGA>CAA	p.R4325Q	SACS_uc001uoo.2_Missense_Mutation_p.R4178Q|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4325	J.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATCTTTTTTCGTTCCGATTC	0.378												
CENPJ	55835	broad.mit.edu	37	13	25484017	25484017	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:25484017G>A	uc001upt.3	-	4	1029	c.776C>T	c.(775-777)GCG>GTG	p.A259V	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	259					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		ATTAGGAGACGCACGTTTTGA	0.393												
PAN3	255967	broad.mit.edu	37	13	28846132	28846132	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:28846132G>A	uc001urz.2	+	13	1543	c.1535G>A	c.(1534-1536)TGT>TAT	p.C512Y	PAN3_uc010tdo.1_Missense_Mutation_p.C658Y|PAN3_uc001ury.2_Missense_Mutation_p.C346Y|PAN3_uc001urx.2_Missense_Mutation_p.C458Y	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	658	Protein kinase.|Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CGAGTAAATTGTGTTGGAGTT	0.274												
MTUS2	23281	broad.mit.edu	37	13	30066788	30066788	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:30066788A>G	uc001usl.3	+	10	3599	c.3541A>G	c.(3541-3543)ATG>GTG	p.M1181V	MTUS2_uc001usm.3_Missense_Mutation_p.M150V|MTUS2_uc010aau.2_Missense_Mutation_p.M60V	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	1171	Potential.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						TCCAGAATTGATGTCCACTCA	0.348												
SLC7A1	6541	broad.mit.edu	37	13	30110247	30110247	+	Missense_Mutation	SNP	G	G	A	rs141349204	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:30110247G>A	uc001uso.2	-	3	466	c.79C>T	c.(79-81)CGG>TGG	p.R27W		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	27	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CGAGACAGCCGCGTCTCCTCC	0.612												
B3GALTL	145173	broad.mit.edu	37	13	31897899	31897899	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:31897899G>A	uc010aaz.2	+	14	1306	c.1196G>A	c.(1195-1197)AGC>AAC	p.S399N	B3GALTL_uc001utn.3_RNA|B3GALTL_uc001uto.3_Missense_Mutation_p.S4N	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	399	Lumenal (Potential).				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		ATGGTCTTCAGCAGAGAAGCC	0.527												
RXFP2	122042	broad.mit.edu	37	13	32366044	32366044	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:32366044A>C	uc001utt.2	+	15	1318	c.1247A>C	c.(1246-1248)AAT>ACT	p.N416T	RXFP2_uc010aba.2_Missense_Mutation_p.N375T	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	416	Extracellular (Potential).					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTGGCTAACAATATCCTCAGA	0.383												
FRY	10129	broad.mit.edu	37	13	32759208	32759208	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:32759208A>G	uc001utx.2	+	26	3738	c.3242A>G	c.(3241-3243)GAC>GGC	p.D1081G	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1081					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCTGAAAATGACAAAGAAGTT	0.448												
FRY	10129	broad.mit.edu	37	13	32839600	32839600	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:32839600G>A	uc001utx.2	+	54	8289	c.7793G>A	c.(7792-7794)CGT>CAT	p.R2598H	FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Missense_Mutation_p.R153H|FRY_uc001utz.2_Missense_Mutation_p.R123H|FRY_uc010tdx.1_Translation_Start_Site	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAAGCTGTTCGTGAGGAGGAG	0.443												
FREM2	341640	broad.mit.edu	37	13	39265389	39265389	+	Missense_Mutation	SNP	C	C	T	rs138477887	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:39265389C>T	uc001uwv.2	+	1	4217	c.3908C>T	c.(3907-3909)ACG>ATG	p.T1303M		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1303	Extracellular (Potential).|CSPG 9.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GATGATGAGACGCCCAGAATG	0.383												
WBP4	11193	broad.mit.edu	37	13	41656921	41656921	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:41656921A>G	uc001uxt.2	+	10	1115	c.1002A>G	c.(1000-1002)AAA>AAG	p.K334K	WBP4_uc010tfd.1_Silent_p.K313K	NM_007187	NP_009118	O75554	WBP4_HUMAN	WW domain-containing binding protein 4	334					nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|kidney(1)	3		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		GAGAACCCAAAGTGGTATTTA	0.398												
TNFSF11	8600	broad.mit.edu	37	13	43180821	43180821	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:43180821T>C	uc001uyu.2	+	5	870	c.721T>C	c.(721-723)TAC>CAC	p.Y241H	TNFSF11_uc001uyt.2_Missense_Mutation_p.Y168H	NM_003701	NP_003692	O14788	TNF11_HUMAN	tumor necrosis factor ligand superfamily, member	241	Extracellular (Potential).				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding				0		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		ACTAATGGTGTACGTCACTAA	0.393												
CCDC122	160857	broad.mit.edu	37	13	44434096	44434096	+	Silent	SNP	A	A	G	rs144888345		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:44434096A>G	uc010acf.2	-	5	526	c.267T>C	c.(265-267)CAT>CAC	p.H89H	CCDC122_uc010tfn.1_Silent_p.H89H	NM_144974	NP_659411	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	89	Potential.										0		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		GGCTATCACAATGAAGTTTGG	0.333												
SPERT	220082	broad.mit.edu	37	13	46287328	46287328	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:46287328C>T	uc001van.1	+	3	248	c.168C>T	c.(166-168)GCC>GCT	p.A56A	SPERT_uc001vao.2_Silent_p.A20A	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	56						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GGGGCACAGCCGAACCCTTCC	0.647												
ZC3H13	23091	broad.mit.edu	37	13	46542050	46542050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:46542050G>A	uc010tfw.1	-	14	3916	c.3910C>T	c.(3910-3912)CGA>TGA	p.R1304*	ZC3H13_uc001vaq.2_5'UTR|ZC3H13_uc001vas.1_Nonsense_Mutation_p.R1304*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1304	Potential.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TGTTCATATCGATCTCGTTCT	0.244												
MED4	29079	broad.mit.edu	37	13	48651317	48651317	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:48651317A>G	uc001vby.1	-	7	797	c.771T>C	c.(769-771)ATT>ATC	p.I257I	MED4_uc010tge.1_Silent_p.I257I|MED4_uc010tgf.1_Silent_p.I211I	NM_014166	NP_054885	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	257					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CCGTTGACATAATCTCTACAT	0.343												
THSD1	55901	broad.mit.edu	37	13	52972005	52972005	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:52972005G>T	uc001vgo.2	-	3	928	c.383C>A	c.(382-384)CCT>CAT	p.P128H	THSD1_uc001vgp.2_Missense_Mutation_p.P128H|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	128	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GTGAAAGACAGGCCATTCCAC	0.522												
HNRNPA1L2	144983	broad.mit.edu	37	13	53217089	53217089	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:53217089C>T	uc001vgx.1	+	7	1535	c.462C>T	c.(460-462)GAC>GAT	p.D154D	HNRNPA1L2_uc001vgy.1_Silent_p.D154D|HNRNPA1L2_uc001vgz.1_Silent_p.D154D	NM_001011724	NP_001011724	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like	154	Globular B domain.|RRM 2.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding				0						TAACCTTTGACGACCATGACT	0.413												
PCDH17	27253	broad.mit.edu	37	13	58240906	58240906	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:58240906G>C	uc001vhq.1	+	3	3628	c.2736G>C	c.(2734-2736)ATG>ATC	p.M912I	PCDH17_uc010aec.1_Missense_Mutation_p.M911I|PCDH17_uc001vhr.1_Missense_Mutation_p.M1I	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	912	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCTGTGACATGTCTGTTAGGG	0.473												
C13orf34	79866	broad.mit.edu	37	13	73320157	73320157	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:73320157A>G	uc001viv.1	+	9	933	c.814A>G	c.(814-816)ATT>GTT	p.I272V	C13orf34_uc010thq.1_Missense_Mutation_p.I47V|C13orf34_uc010aen.1_Missense_Mutation_p.I347V|C13orf34_uc010thr.1_Missense_Mutation_p.I202V|C13orf34_uc001viw.1_Missense_Mutation_p.I221V	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	272	Ser-rich.				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)		TCCTTCGCCTATTTCTTCACC	0.348												
C13orf34	79866	broad.mit.edu	37	13	73320842	73320842	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:73320842G>T	uc001viv.1	+	10	1194	c.1075G>T	c.(1075-1077)GGT>TGT	p.G359C	C13orf34_uc010thq.1_Missense_Mutation_p.G134C|C13orf34_uc010aen.1_Missense_Mutation_p.G434C|C13orf34_uc010thr.1_Missense_Mutation_p.G289C|C13orf34_uc001viw.1_Missense_Mutation_p.G308C	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	359					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)		TGAGACTCAAGGTGAAGATGA	0.433												
MYCBP2	23077	broad.mit.edu	37	13	77664391	77664391	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:77664391T>C	uc001vkf.2	-	61	10352	c.10261A>G	c.(10261-10263)ACC>GCC	p.T3421A	MYCBP2_uc010aev.2_Missense_Mutation_p.T2825A|MYCBP2_uc001vke.2_Missense_Mutation_p.T41A	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATGGGACTGGTTTCTAAACTG	0.343												
SCEL	8796	broad.mit.edu	37	13	78130014	78130014	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:78130014T>C	uc001vki.2	+	2	174	c.4T>C	c.(4-6)TCC>CCC	p.S2P	SCEL_uc001vkj.2_Missense_Mutation_p.S2P|SCEL_uc010thx.1_Missense_Mutation_p.S2P	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	2					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AGGCAGCATGTCCAATGTTAC	0.368												
SLITRK1	114798	broad.mit.edu	37	13	84454996	84454996	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:84454996C>T	uc001vlk.2	-	1	1533	c.647G>A	c.(646-648)TGC>TAC	p.C216Y		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	216	Extracellular (Potential).|LRRCT 1.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ATCACAGGTGCAGTCCCAAGG	0.562												
GPC5	2262	broad.mit.edu	37	13	92408615	92408615	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:92408615T>C	uc010tif.1	+	5	1587	c.1221T>C	c.(1219-1221)GCT>GCC	p.A407A		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	407						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGCTTTGTGCTAATGAATTAG	0.373												
DCT	1638	broad.mit.edu	37	13	95121135	95121135	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:95121135G>A	uc001vlv.3	-	2	887	c.460C>T	c.(460-462)CCC>TCC	p.P154S	DCT_uc010afh.2_Missense_Mutation_p.P154S	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	154	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		ACGTAGTCGGGGTGTACTCTC	0.517												
ABCC4	10257	broad.mit.edu	37	13	95813534	95813534	+	Silent	SNP	G	G	A	rs11568709		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:95813534G>A	uc001vmd.3	-	19	2483	c.2364C>T	c.(2362-2364)TAC>TAT	p.Y788Y	ABCC4_uc010afk.2_Silent_p.Y741Y|ABCC4_uc001vme.2_Silent_p.Y788Y|ABCC4_uc010tih.1_Silent_p.Y713Y	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	788	ABC transmembrane type-1 2.|Helical; (Potential).				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TAACAAGGACGTAGAATACCA	0.353												
ABCC4	10257	broad.mit.edu	37	13	95860172	95860172	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:95860172T>C	uc001vmd.3	-	7	912	c.793A>G	c.(793-795)ACT>GCT	p.T265A	ABCC4_uc010afk.2_Missense_Mutation_p.T265A|ABCC4_uc001vme.2_Missense_Mutation_p.T265A|ABCC4_uc010tih.1_Missense_Mutation_p.T190A|ABCC4_uc001vmf.2_Missense_Mutation_p.T222A|ABCC4_uc010afl.1_Missense_Mutation_p.T222A|ABCC4_uc010afm.1_Missense_Mutation_p.T278A	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	265	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	AAAGTTGCAGTTTTACTCCTA	0.478												
MBNL2	10150	broad.mit.edu	37	13	98009806	98009806	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:98009806C>T	uc010aft.2	+	6	1691	c.875C>T	c.(874-876)GCG>GTG	p.A292V	MBNL2_uc001vmz.2_Missense_Mutation_p.A292V|MBNL2_uc001vna.2_Missense_Mutation_p.A292V|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Missense_Mutation_p.A137V|MBNL2_uc001vnc.2_Missense_Mutation_p.A25V	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1	292					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding				0	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			GGTACCAGCGCGGTCTTTAAC	0.502												
RNF113B	140432	broad.mit.edu	37	13	98828627	98828627	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:98828627C>T	uc001vnk.2	-	1	895	c.864G>A	c.(862-864)CCG>CCA	p.P288P	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	288	RING-type.						nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TGTAGCAGCGCGGGGTGGCCC	0.582												
RNF113B	140432	broad.mit.edu	37	13	98829348	98829348	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:98829348C>T	uc001vnk.2	-	1	174	c.143G>A	c.(142-144)AGC>AAC	p.S48N	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	48							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GTCCCCGCTGCTGCTGCTCTC	0.697												
ZIC2	7546	broad.mit.edu	37	13	100637714	100637714	+	Silent	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:100637714A>T	uc001von.2	+	3	1377	c.1377A>T	c.(1375-1377)GCA>GCT	p.A459A		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	459	Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					cggcggcggcagcggcggcgg	0.328												
NALCN	259232	broad.mit.edu	37	13	101757264	101757264	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:101757264T>C	uc001vox.1	-	23	2806	c.2617A>G	c.(2617-2619)ACA>GCA	p.T873A		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	873	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGTACTTTGTATTTTTCACA	0.318												
TPP2	7174	broad.mit.edu	37	13	103290596	103290596	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:103290596G>A	uc001vpi.3	+	15	1947	c.1844G>A	c.(1843-1845)GGC>GAC	p.G615D		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	615					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGGTATGTGGCTATGATATA	0.403												
ERCC5	2073	broad.mit.edu	37	13	103518251	103518251	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:103518251A>G	uc001vpw.2	+	9	2632	c.2189A>G	c.(2188-2190)GAT>GGT	p.D730G	ERCC5_uc001vpu.1_Missense_Mutation_p.D1184G|ERCC5_uc010tjb.1_Missense_Mutation_p.D730G|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.D562G	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	730					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAATGGCAAGATATTAATTTG	0.458			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
MYO16	23026	broad.mit.edu	37	13	109779686	109779686	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:109779686C>T	uc001vqt.1	+	31	3899	c.3773C>T	c.(3772-3774)GCG>GTG	p.A1258V	MYO16_uc010agk.1_Missense_Mutation_p.A1280V|MYO16_uc010tjh.1_Missense_Mutation_p.A770V	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1258					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCAGTCTGCGCGGCCGTGGAT	0.607												
MYO16	23026	broad.mit.edu	37	13	109779790	109779790	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:109779790C>T	uc001vqt.1	+	31	4003	c.3877C>T	c.(3877-3879)CGG>TGG	p.R1293W	MYO16_uc010agk.1_Missense_Mutation_p.R1315W|MYO16_uc010tjh.1_Missense_Mutation_p.R805W	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1293					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCGTCTCCACGGAAACAGCC	0.662												
MYO16	23026	broad.mit.edu	37	13	109793423	109793423	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:109793423C>T	uc001vqt.1	+	32	4923	c.4797C>T	c.(4795-4797)CCC>CCT	p.P1599P	MYO16_uc010agk.1_Silent_p.P1621P	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1599	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGCCGGAGCCCGCCCCGGTGA	0.617												
IRS2	8660	broad.mit.edu	37	13	110434515	110434515	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:110434515C>T	uc001vqv.2	-	1	4400	c.3886G>A	c.(3886-3888)GCT>ACT	p.A1296T		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1296					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			ACGCCCACAGCGCTGATGAGA	0.557												
IRS2	8660	broad.mit.edu	37	13	110436740	110436740	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:110436740C>T	uc001vqv.2	-	1	2175	c.1661G>A	c.(1660-1662)CGC>CAC	p.R554H		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	554					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GCGGTAGGAGCGGCCACAGTG	0.736												
ING1	3621	broad.mit.edu	37	13	111371744	111371744	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:111371744G>A	uc001vri.2	+	2	1166	c.734G>A	c.(733-735)CGC>CAC	p.R245H	ING1_uc001vrf.2_Missense_Mutation_p.R58H|ING1_uc001vrg.2_Missense_Mutation_p.R33H|ING1_uc001vrh.2_Missense_Mutation_p.R102H	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1 isoform D	245					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			ovary(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GTGGAGAACCGCACGCGGCAG	0.672												
TUBGCP3	10426	broad.mit.edu	37	13	113140461	113140461	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:113140461A>G	uc001vse.1	-	22	2757	c.2570T>C	c.(2569-2571)ATC>ACC	p.I857T	TUBGCP3_uc010tjq.1_Missense_Mutation_p.I847T	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	857					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CTGCTGCACGATACCCTAAAA	0.448												
FAM70B	348013	broad.mit.edu	37	13	114469097	114469097	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:114469097C>T	uc001vuh.2	+	2	83	c.56C>T	c.(55-57)TCG>TTG	p.S19L	FAM70B_uc010tkh.1_Missense_Mutation_p.S19L	NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	19						integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GAAGGGCTTTCGAGGAGGAAG	0.637												
TEP1	7011	broad.mit.edu	37	14	20841863	20841863	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:20841863C>T	uc001vxe.2	-	45	6618	c.6578G>A	c.(6577-6579)TGT>TAT	p.C2193Y	TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.2_Missense_Mutation_p.C1536Y|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.C2085Y|TEP1_uc010tlh.1_Missense_Mutation_p.C531Y	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2193	WD 14.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGCAGCTGCACAGTGGCTAAT	0.587												
RNASE2	6036	broad.mit.edu	37	14	21424363	21424363	+	Nonsense_Mutation	SNP	C	C	T	rs149973422		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:21424363C>T	uc010aif.2	+	2	502	c.433C>T	c.(433-435)CGA>TGA	p.R145*	RNASE2_uc001vyl.1_Nonsense_Mutation_p.R145*	NM_002934	NP_002925	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver,	145					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			ovary(1)	1	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		AGATCAACGACGAGACCCTCC	0.473												
FLJ10357	55701	broad.mit.edu	37	14	21542374	21542374	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:21542374T>G	uc001vzp.2	+	3	514	c.485T>G	c.(484-486)CTC>CGC	p.L162R	FLJ10357_uc001vzn.1_Missense_Mutation_p.L162R|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	162					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		ACAGGTCGCCTCAGTACCTGC	0.592												
FLJ10357	55701	broad.mit.edu	37	14	21549845	21549845	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:21549845C>T	uc001vzp.2	+	14	2847	c.2818C>T	c.(2818-2820)CGC>TGC	p.R940C	FLJ10357_uc001vzo.1_Missense_Mutation_p.R19C|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.R226C	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	940	Potential.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		AGAATGGGGCCGCTGCCAGGC	0.731												
FLJ10357	55701	broad.mit.edu	37	14	21549929	21549929	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:21549929C>T	uc001vzp.2	+	14	2931	c.2902C>T	c.(2902-2904)CGG>TGG	p.R968W	FLJ10357_uc001vzo.1_Missense_Mutation_p.R47W|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.R254W	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	968	Poly-Arg.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		CTACCGACGACGGCGGGCAGA	0.726												
CHD8	57680	broad.mit.edu	37	14	21896109	21896109	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:21896109G>A	uc001was.1	-	4	777	c.683C>T	c.(682-684)GCT>GTT	p.A228V	CHD8_uc001war.1_Missense_Mutation_p.A124V	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	507					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCTCTCCCCAGCACTCTTCTT	0.527												
TOX4	9878	broad.mit.edu	37	14	21960775	21960775	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:21960775C>T	uc001waz.2	+	7	1103	c.1000C>T	c.(1000-1002)CCC>TCC	p.P334S	TOX4_uc001way.2_Missense_Mutation_p.P204S|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.P311S|TOX4_uc010tlv.1_Missense_Mutation_p.P204S	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	334						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TTCAATAGAGCCCCCTGCCCT	0.527												
PSMB11	122706	broad.mit.edu	37	14	23511636	23511636	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:23511636C>T	uc010ake.1	+	1	261	c.202C>T	c.(202-204)CGT>TGT	p.R68C		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	proteasome beta 11 subunit precursor	68					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		AGCTGACACGCGTTCCTCCTG	0.622												
MYH6	4624	broad.mit.edu	37	14	23853810	23853810	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:23853810G>A	uc001wjv.2	-	36	5473	c.5406C>T	c.(5404-5406)GCC>GCT	p.A1802A		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1802	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGATCTGCTCGGCCTCGTCCA	0.632												
LRRC16B	90668	broad.mit.edu	37	14	24529193	24529193	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:24529193G>A	uc001wlj.2	+	23	2040	c.1883G>A	c.(1882-1884)CGC>CAC	p.R628H	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	628										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		CACACGCTGCGCTTCATGTCC	0.652												
TSSK4	283629	broad.mit.edu	37	14	24676542	24676542	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:24676542C>T	uc001wng.2	+	3	799	c.631C>T	c.(631-633)CGA>TGA	p.R211*	TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.2_Nonsense_Mutation_p.R135*|TSSK4_uc001wnf.2_Nonsense_Mutation_p.R141*|TSSK4_uc001wnh.2_Nonsense_Mutation_p.R221*	NM_174944	NP_777604	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	211	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity				0				GBM - Glioblastoma multiforme(265;0.018)		AGAGATCTTACGAGGCTTGCC	0.537												
TINF2	26277	broad.mit.edu	37	14	24709992	24709992	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:24709992G>A	uc001woa.3	-	6	1036	c.694C>T	c.(694-696)CCA>TCA	p.P232S	TINF2_uc010alm.2_Missense_Mutation_p.P56S|TINF2_uc001wob.3_Missense_Mutation_p.P232S|TINF2_uc010tof.1_Missense_Mutation_p.P197S|TINF2_uc001woc.3_3'UTR	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	232					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|protein binding|telomeric DNA binding				0				GBM - Glioblastoma multiforme(265;0.0185)		TTGGCTTTTGGCAGGGGATTG	0.537									Ataxia_Pancytopenia_syndrome|Congenital_Dyskeratosis			
TGM1	7051	broad.mit.edu	37	14	24724429	24724429	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:24724429G>A	uc001wod.2	-	12	1800	c.1676C>T	c.(1675-1677)ACA>ATA	p.T559I	TGM1_uc010tog.1_Missense_Mutation_p.T117I	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	559					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GGCTGCTGCTGTCTCTACTGC	0.622												
NYNRIN	57523	broad.mit.edu	37	14	24878156	24878156	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:24878156G>A	uc001wpf.3	+	4	1474	c.1156G>A	c.(1156-1158)GCG>ACG	p.A386T		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	386					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						CCTGTCCCAGGCGTGCTTCAA	0.567												
GZMB	3002	broad.mit.edu	37	14	25102239	25102239	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:25102239G>C	uc001wps.2	-	2	151	c.85C>G	c.(85-87)CCC>GCC	p.P29A	GZMB_uc010ama.2_Missense_Mutation_p.P17A|GZMB_uc010amb.2_RNA	NM_004131	NP_004122	P10144	GRAB_HUMAN	granzyme B precursor	29	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity				0				GBM - Glioblastoma multiforme(265;0.028)		CGGGAGTGGGGCTTGGCCTCA	0.567												
NOVA1	4857	broad.mit.edu	37	14	26917784	26917784	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:26917784G>A	uc001wpy.2	-	5	1223	c.905C>T	c.(904-906)GCA>GTA	p.A302V	NOVA1_uc001wpz.2_Missense_Mutation_p.A278V|NOVA1_uc001wqa.2_Missense_Mutation_p.A180V	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	305	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)		AGATAAAACTGCTGGAAAGGC	0.473												
STRN3	29966	broad.mit.edu	37	14	31416424	31416424	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:31416424C>T	uc001wqu.2	-	5	804	c.588G>A	c.(586-588)CGG>CGA	p.R196R	STRN3_uc001wqv.2_Silent_p.R196R|STRN3_uc010tpj.1_RNA	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	nuclear autoantigen isoform 1	196					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CCCGCTGAGACCGTACATCTA	0.358												
HECTD1	25831	broad.mit.edu	37	14	31575967	31575967	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:31575967G>A	uc001wrc.1	-	38	7600	c.7111C>T	c.(7111-7113)CGC>TGC	p.R2371C	HECTD1_uc001wra.1_Missense_Mutation_p.R497C|HECTD1_uc001wrb.1_Missense_Mutation_p.R497C	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2371	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AAAATTTGGCGCCTCTTGATA	0.383												
HEATR5A	25938	broad.mit.edu	37	14	31795515	31795515	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:31795515G>A	uc001wrf.3	-	17	2599	c.2522C>T	c.(2521-2523)GCA>GTA	p.A841V	HEATR5A_uc010ami.2_Missense_Mutation_p.A739V|HEATR5A_uc001wrg.1_Missense_Mutation_p.A723V	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1128							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GATCAACAATGCCCCCTCAAG	0.363												
AKAP6	9472	broad.mit.edu	37	14	33015768	33015768	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:33015768C>A	uc001wrq.2	+	4	2079	c.1909C>A	c.(1909-1911)CTT>ATT	p.L637I	AKAP6_uc010aml.2_Missense_Mutation_p.L634I	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	637					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GCCCTCTCACCTTAAGCAGAC	0.473												
AKAP6	9472	broad.mit.edu	37	14	33165210	33165210	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:33165210A>T	uc001wrq.2	+	9	3064	c.2894A>T	c.(2893-2895)GAT>GTT	p.D965V	AKAP6_uc010aml.2_Missense_Mutation_p.D962V	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	965					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGGACTTTGATTCAGAATAT	0.408												
SSTR1	6751	broad.mit.edu	37	14	38679608	38679608	+	Silent	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:38679608A>T	uc001wul.1	+	3	1631	c.1014A>T	c.(1012-1014)CTA>CTT	p.L338L	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	338	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	AACGCATCCTATGCCTCAGCT	0.572												
CLEC14A	161198	broad.mit.edu	37	14	38724735	38724735	+	Missense_Mutation	SNP	G	G	A	rs11553024		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:38724735G>A	uc001wum.1	-	1	840	c.493C>T	c.(493-495)CGC>TGC	p.R165C		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	165	Extracellular (Potential).|C-type lectin.					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCGTTGGCGCGCAGGTGGCAT	0.577												
PNN	5411	broad.mit.edu	37	14	39650122	39650122	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:39650122G>T	uc001wuw.3	+	9	1306	c.1209G>T	c.(1207-1209)CAG>CAT	p.Q403H		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	403	Glu-rich.			DQ -> EE (in Ref. 3; AAG33941).	cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TTGCTGACCAGGAGGTAATGG	0.323												
PNN	5411	broad.mit.edu	37	14	39650888	39650888	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:39650888G>T	uc001wuw.3	+	9	2072	c.1975G>T	c.(1975-1977)GGA>TGA	p.G659*		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	659	Ser-rich.|Arg-rich.|Necessary for interaction with PPIG.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GGATACTTCAGGACTAGAAAG	0.418												
MDGA2	161357	broad.mit.edu	37	14	47311144	47311144	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:47311144G>T	uc001wwj.3	-	17	3057	c.2861C>A	c.(2860-2862)CCT>CAT	p.P954H	MDGA2_uc001wwh.3_Missense_Mutation_p.P156H|MDGA2_uc001wwi.3_Missense_Mutation_p.P725H	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	954					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						TCACCTTCGAGGACTTAAGAT	0.393												
TRIM9	114088	broad.mit.edu	37	14	51560960	51560960	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:51560960T>C	uc001wyx.3	-	1	1463	c.698A>G	c.(697-699)GAG>GGG	p.E233G	TRIM9_uc001wyy.2_Missense_Mutation_p.E233G|TRIM9_uc001wyz.3_Missense_Mutation_p.E233G	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	233	B box-type 2.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					GTTCTCCAGCTCGTGGTCTGT	0.652												
TRIM9	114088	broad.mit.edu	37	14	51561225	51561225	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:51561225A>G	uc001wyx.3	-	1	1198	c.433T>C	c.(433-435)TTC>CTC	p.F145L	TRIM9_uc001wyy.2_Missense_Mutation_p.F145L|TRIM9_uc001wyz.3_Missense_Mutation_p.F145L	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	145					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					TTCTTGGGGAAGCCGCGGAGC	0.657												
FRMD6	122786	broad.mit.edu	37	14	52188777	52188777	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:52188777C>T	uc001wzd.2	+	12	1756	c.1471C>T	c.(1471-1473)CGG>TGG	p.R491W	FRMD6_uc001wzb.2_Missense_Mutation_p.R483W|FRMD6_uc001wzc.2_Missense_Mutation_p.R483W|FRMD6_uc001wze.2_Missense_Mutation_p.R414W|FRMD6_uc001wzf.2_Missense_Mutation_p.R184W|FRMD6_uc001wzg.2_Missense_Mutation_p.R133W	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	491						cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)					GCTCATGTCGCGGAAGCTGAA	0.488												
SLC35F4	341880	broad.mit.edu	37	14	58033243	58033243	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:58033243T>C	uc001xdb.1	-	7	1274	c.1274A>G	c.(1273-1275)TAC>TGC	p.Y425C	SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.Y266C	NM_001080455	NP_001073924			solute carrier family 35, member F4											ovary(2)	2						TAGGATTGGGTATGTCAGCAC	0.468												
SLC38A6	145389	broad.mit.edu	37	14	61451485	61451485	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:61451485T>C	uc001xfg.1	+	3	390	c.274T>C	c.(274-276)TCA>CCA	p.S92P	SLC38A6_uc001xfh.1_Missense_Mutation_p.S92P|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Missense_Mutation_p.S69P	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	92	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GGCTTCTTACTCAGTCCATCT	0.378												
KCNH5	27133	broad.mit.edu	37	14	63417232	63417232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:63417232G>A	uc001xfx.2	-	7	1039	c.988C>T	c.(988-990)CGA>TGA	p.R330*	KCNH5_uc001xfy.2_Nonsense_Mutation_p.R330*|KCNH5_uc001xfz.1_Nonsense_Mutation_p.R272*|KCNH5_uc001xga.2_Nonsense_Mutation_p.R272*	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	330	Helical; Voltage-sensor; Name=Segment S4; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGGCCCAGTCGTAAGAGACGC	0.448												
SYNE2	23224	broad.mit.edu	37	14	64596551	64596551	+	Missense_Mutation	SNP	A	A	G	rs143798878		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:64596551A>G	uc001xgm.2	+	75	14301	c.14071A>G	c.(14071-14073)AAA>GAA	p.K4691E	SYNE2_uc001xgl.2_Missense_Mutation_p.K4691E|SYNE2_uc010apy.2_Missense_Mutation_p.K1076E|SYNE2_uc010apz.1_Missense_Mutation_p.K583E	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4691	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCGAGTGGCCAAACTAAGAGA	0.443												
SYNE2	23224	broad.mit.edu	37	14	64675598	64675598	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:64675598G>A	uc001xgm.2	+	101	18554	c.18324G>A	c.(18322-18324)CAG>CAA	p.Q6108Q	SYNE2_uc001xgl.2_Silent_p.Q6108Q|SYNE2_uc010apy.2_Silent_p.Q2493Q|SYNE2_uc001xgn.2_Silent_p.Q1070Q|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Silent_p.Q78Q|SYNE2_uc001xgq.2_Silent_p.Q473Q|SYNE2_uc001xgr.2_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6108	Cytoplasmic (Potential).|Spectrin 6.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGATCCAGCAGACCACCAGGA	0.557												
HSPA2	3306	broad.mit.edu	37	14	65008542	65008542	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:65008542C>T	uc001xhj.2	+	2	1051	c.975C>T	c.(973-975)CGC>CGT	p.R325R	HSPA2_uc001xhk.3_Silent_p.R325R	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	325					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		AGGCGCTGCGCGACGCCAAGC	0.627												
PLEKHG3	26030	broad.mit.edu	37	14	65209941	65209941	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:65209941C>T	uc001xho.1	+	17	3449	c.3180C>T	c.(3178-3180)CGC>CGT	p.R1060R	PLEKHG3_uc001xhn.1_Silent_p.R1004R|PLEKHG3_uc001xhp.2_Silent_p.R1181R|PLEKHG3_uc010aqh.1_Silent_p.R602R|PLEKHG3_uc001xhq.1_Silent_p.R565R	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	1060					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ATGCCTCCCGCGATGAGGCAC	0.612												
SPTB	6710	broad.mit.edu	37	14	65260266	65260266	+	Silent	SNP	C	C	T	rs142550439	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:65260266C>T	uc001xht.2	-	13	2169	c.2115G>A	c.(2113-2115)GCG>GCA	p.A705A	SPTB_uc001xhr.2_Silent_p.A705A|SPTB_uc001xhs.2_Silent_p.A705A|SPTB_uc001xhu.2_Silent_p.A705A	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	705	Spectrin 4.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACTGCTTGCGCGCAACCATGC	0.592												
TMEM229B	161145	broad.mit.edu	37	14	67940463	67940463	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:67940463C>T	uc001xjk.2	-	3	588	c.178G>A	c.(178-180)GTG>ATG	p.V60M	TMEM229B_uc001xjj.1_RNA	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	60	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						ATGCGCTCCACGATGAGGATG	0.632												
PLEKHH1	57475	broad.mit.edu	37	14	68046484	68046484	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:68046484G>A	uc001xjl.1	+	22	3216	c.3074G>A	c.(3073-3075)CGG>CAG	p.R1025Q	PLEKHH1_uc010tsw.1_Missense_Mutation_p.R593Q|PLEKHH1_uc001xjn.1_Missense_Mutation_p.R540Q|PLEKHH1_uc010tsx.1_5'UTR|PLEKHH1_uc001xjo.1_5'Flank|PLEKHH1_uc001xjp.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	1025	FERM.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TTCCTCCAGCGGCTGAACCAG	0.587												
ZFYVE26	23503	broad.mit.edu	37	14	68251918	68251918	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:68251918C>T	uc001xka.2	-	19	3520	c.3381G>A	c.(3379-3381)GTG>GTA	p.V1127V	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.V1127V	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1127					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCTGGATCTGCACAGGGTGGG	0.587												
SFRS5	6430	broad.mit.edu	37	14	70237973	70237973	+	Missense_Mutation	SNP	G	G	A	rs141668513		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:70237973G>A	uc001xll.2	+	9	2065	c.614G>A	c.(613-615)CGT>CAT	p.R205H	SFRS5_uc001xlm.2_RNA|SFRS5_uc001xlo.2_Missense_Mutation_p.R205H|SFRS5_uc001xlp.2_Missense_Mutation_p.R205H|SFRS5_uc001xlq.2_Missense_Mutation_p.R202H	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	splicing factor, arginine/serine-rich 5	205	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding				0				all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154)		AGCCGATCCCGTTCCCGTAGT	0.527												
SMOC1	64093	broad.mit.edu	37	14	70459178	70459178	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:70459178T>C	uc001xls.1	+	6	824	c.571T>C	c.(571-573)TTC>CTC	p.F191L	SMOC1_uc001xlt.1_Missense_Mutation_p.F191L	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN	secreted modular calcium-binding protein 1	191					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			upper_aerodigestive_tract(1)|pancreas(1)	2				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCAGCCGGTGTTCGATGGAGA	0.418												
SMOC1	64093	broad.mit.edu	37	14	70477655	70477655	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:70477655C>A	uc001xls.1	+	8	1102	c.849C>A	c.(847-849)ACC>ACA	p.T283T	SMOC1_uc001xlt.1_Silent_p.T283T	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN	secreted modular calcium-binding protein 1	283	Thyroglobulin type-1 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			upper_aerodigestive_tract(1)|pancreas(1)	2				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TGCCTGGGACCTCCACACGGT	0.622												
PCNX	22990	broad.mit.edu	37	14	71570119	71570119	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:71570119A>G	uc001xmo.2	+	32	6274	c.5828A>G	c.(5827-5829)AAG>AGG	p.K1943R	PCNX_uc010are.1_Missense_Mutation_p.K1832R|PCNX_uc010arf.1_Missense_Mutation_p.K731R|PCNX_uc001xmp.2_Missense_Mutation_p.K27R	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1943						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGGTGAATAAGGAATGTGTC	0.438												
SIPA1L1	26037	broad.mit.edu	37	14	72190597	72190597	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:72190597C>T	uc001xms.2	+	16	4853	c.4505C>T	c.(4504-4506)ACG>ATG	p.T1502M	SIPA1L1_uc001xmt.2_Missense_Mutation_p.T1481M|SIPA1L1_uc001xmu.2_Missense_Mutation_p.T1481M|SIPA1L1_uc001xmv.2_Missense_Mutation_p.T1502M|SIPA1L1_uc010ttm.1_Missense_Mutation_p.T956M|SIPA1L1_uc001xmw.2_Missense_Mutation_p.T267M	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1502					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTTATGGACACGAGAAAGTAA	0.468												
ZFYVE1	53349	broad.mit.edu	37	14	73437631	73437631	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:73437631G>A	uc001xnm.2	-	12	2933	c.2293C>T	c.(2293-2295)CGA>TGA	p.R765*	ZFYVE1_uc001xnl.2_Nonsense_Mutation_p.R350*|ZFYVE1_uc010arj.2_Nonsense_Mutation_p.R751*	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1 isoform 1	765	FYVE-type 2.					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			skin(1)	1		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AAGCAGACTCGGACGGGATGG	0.582												
PAPLN	89932	broad.mit.edu	37	14	73718770	73718770	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:73718770C>T	uc010ttx.1	+	9	1051	c.888C>T	c.(886-888)CAC>CAT	p.H296H	PAPLN_uc001xnw.3_Silent_p.H269H|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.H296H	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	296						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ATGAGTACCACCTGCCCCTGC	0.682												
PAPLN	89932	broad.mit.edu	37	14	73726214	73726214	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:73726214A>G	uc010ttx.1	+	15	2109	c.1946A>G	c.(1945-1947)CAG>CGG	p.Q649R	PAPLN_uc001xnw.3_Missense_Mutation_p.Q622R|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.Q649R|PAPLN_uc010arm.2_5'Flank|PAPLN_uc010arn.2_5'Flank	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	649						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CTCGGGCCTCAGTGGCAAGGC	0.682												
PNMA1	9240	broad.mit.edu	37	14	74179976	74179976	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:74179976G>T	uc001xor.1	-	1	1153	c.367C>A	c.(367-369)CTT>ATT	p.L123I		NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN	paraneoplastic antigen MA1	123					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		tgaaacccaaggacacgggca	0												
COQ6	51004	broad.mit.edu	37	14	74417141	74417141	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:74417141T>C	uc001xph.2	+	1	186	c.106T>C	c.(106-108)TAT>CAT	p.Y36H	FAM161B_uc001xpd.1_5'Flank|COQ6_uc001xpe.2_Intron|COQ6_uc001xpf.2_Intron|COQ6_uc010tuk.1_Intron|COQ6_uc010tul.1_5'UTR|COQ6_uc010tum.1_Missense_Mutation_p.Y36H|COQ6_uc010tun.1_5'UTR|COQ6_uc001xpg.2_Missense_Mutation_p.Y36H	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 homolog isoform a	36					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.00337)		AGACACCGTGTATGACGTGGT	0.697												
C14orf115	55237	broad.mit.edu	37	14	74823989	74823989	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:74823989G>A	uc001xpw.3	+	2	694	c.503G>A	c.(502-504)AGC>AAC	p.S168N		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	168					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		TGTTTCCCCAGCAGCTTCTCC	0.597												
FLVCR2	55640	broad.mit.edu	37	14	76108206	76108206	+	Missense_Mutation	SNP	C	C	T	rs139495418		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:76108206C>T	uc001xrs.2	+	9	1850	c.1474C>T	c.(1474-1476)CGG>TGG	p.R492W	FLVCR2_uc010tvd.1_Missense_Mutation_p.R287W	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular	492					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity				0				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGCAGATCTCCGGAGACAGAA	0.433												
TGFB3	7043	broad.mit.edu	37	14	76427394	76427394	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:76427394G>A	uc001xsc.2	-	6	1808	c.952C>T	c.(952-954)CGC>TGC	p.R318C		NM_003239	NP_003230	P10600	TGFB3_HUMAN	transforming growth factor, beta 3 precursor	318					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0169)		TAGAGGGGGCGCACACAGCAG	0.448												
TGFB3	7043	broad.mit.edu	37	14	76437525	76437525	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:76437525G>A	uc001xsc.2	-	3	1446	c.590C>T	c.(589-591)GCC>GTC	p.A197V	TGFB3_uc001xsd.2_Missense_Mutation_p.A195V	NM_003239	NP_003230	P10600	TGFB3_HUMAN	transforming growth factor, beta 3 precursor	197					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CAGCCACTCGGCAGTGCCCCG	0.527												
ISM2	145501	broad.mit.edu	37	14	77942189	77942189	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:77942189C>T	uc001xtz.2	-	7	1539	c.1465G>A	c.(1465-1467)GCC>ACC	p.A489T	ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.A401T|ISM2_uc010tvl.1_Missense_Mutation_p.A408T	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	489	AMOP.					extracellular region				skin(1)	1						CAGTGCTGGGCGGCCAGTGTG	0.662												
PTPN21	11099	broad.mit.edu	37	14	88946100	88946100	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:88946100G>A	uc001xwv.3	-	13	2006	c.1675C>T	c.(1675-1677)CGG>TGG	p.R559W	PTPN21_uc010twc.1_Missense_Mutation_p.R355W	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	559						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						ACCTGCGTCCGCATGATGTTG	0.701												
KCNK13	56659	broad.mit.edu	37	14	90650906	90650906	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:90650906C>T	uc001xye.1	+	2	1228	c.786C>T	c.(784-786)TTC>TTT	p.F262F		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	262						integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				TTGCCAACTTCGTCTTCATCC	0.493												
C14orf102	55051	broad.mit.edu	37	14	90755331	90755331	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:90755331C>T	uc001xyi.1	-	11	2419	c.2388G>A	c.(2386-2388)ACG>ACA	p.T796T	C14orf102_uc010atp.1_Silent_p.T301T|C14orf102_uc001xyj.1_Silent_p.T565T|C14orf102_uc001xyk.1_5'UTR	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	796							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		TGGCATCCTCCGTGTTGCCAA	0.483												
C14orf102	55051	broad.mit.edu	37	14	90759111	90759111	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:90759111T>G	uc001xyi.1	-	9	1803	c.1772A>C	c.(1771-1773)CAC>CCC	p.H591P	C14orf102_uc010atp.1_Missense_Mutation_p.H96P|C14orf102_uc001xyj.1_Missense_Mutation_p.H360P	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	591							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		GGGCCGCCAGTGCCTCTGGTC	0.567												
CCDC88C	440193	broad.mit.edu	37	14	91806344	91806344	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:91806344A>G	uc010aty.2	-	7	607	c.508T>C	c.(508-510)TTT>CTT	p.F170L	CCDC88C_uc010twk.1_Missense_Mutation_p.F134L	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	170					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				TGCAGGTCAAACACGTTCTCT	0.647												
BTBD7	55727	broad.mit.edu	37	14	93717918	93717918	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:93717918C>T	uc001ybo.2	-	8	2159	c.1833G>A	c.(1831-1833)ACG>ACA	p.T611T	BTBD7_uc010aur.2_Silent_p.T136T|BTBD7_uc010two.1_Silent_p.T431T|BTBD7_uc001ybp.2_Silent_p.T260T	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	611										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CCATGTAGAGCGTGTCTGGCA	0.478												
PPP4R4	57718	broad.mit.edu	37	14	94722808	94722808	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:94722808G>T	uc001ycs.1	+	17	2031	c.1877G>T	c.(1876-1878)TGC>TTC	p.C626F		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	626						cytoplasm|protein serine/threonine phosphatase complex	protein binding			skin(3)|upper_aerodigestive_tract(1)	4						ATGAAACTTTGCTACCTGTTG	0.333												
SERPINA11	256394	broad.mit.edu	37	14	94909415	94909415	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:94909415C>A	uc001ydd.1	-	4	1125	c.1065G>T	c.(1063-1065)AAG>AAT	p.K355N		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	355					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1				COAD - Colon adenocarcinoma(157;0.211)		ACCACTTTACCTTGGAGATGG	0.463												
SERPINA4	5267	broad.mit.edu	37	14	95030431	95030431	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:95030431C>T	uc001ydk.2	+	2	678	c.612C>T	c.(610-612)GAC>GAT	p.D204D	SERPINA4_uc010avd.2_Silent_p.D241D|SERPINA4_uc001ydl.2_Silent_p.D204D	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	204					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)		TCAAGAAGGACGTCTTGATGG	0.453												
DICER1	23405	broad.mit.edu	37	14	95599742	95599742	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:95599742G>T	uc001ydw.2	-	3	236	c.54C>A	c.(52-54)ACC>ACA	p.T18T	DICER1_uc001ydv.2_Silent_p.T8T|DICER1_uc001ydx.2_Silent_p.T18T|DICER1_uc001ydz.1_RNA|DICER1_uc001yea.1_RNA|DICER1_uc001yeb.1_RNA|DICER1_uc001yec.1_RNA	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	18					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGGAAGCAGGGGTCATGAGCT	0.448			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_			
ATG2B	55102	broad.mit.edu	37	14	96781919	96781919	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:96781919G>A	uc001yfi.2	-	22	3728	c.3363C>T	c.(3361-3363)GGC>GGT	p.G1121G		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1121										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CATTCACTATGCCTAGAGATC	0.408												
EML1	2009	broad.mit.edu	37	14	100377764	100377764	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:100377764A>G	uc001ygs.2	+	13	1414	c.1345A>G	c.(1345-1347)AAT>GAT	p.N449D	EML1_uc010tww.1_Missense_Mutation_p.N437D|EML1_uc001ygq.2_Missense_Mutation_p.N468D|EML1_uc001ygr.2_Missense_Mutation_p.N468D	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	449	WD 4.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTTAGGTACAAATCGAATAAG	0.438												
WARS	7453	broad.mit.edu	37	14	100803446	100803446	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:100803446G>T	uc001yhf.1	-	9	1291	c.1207C>A	c.(1207-1209)CTG>ATG	p.L403M	WARS_uc001yhe.1_Missense_Mutation_p.L209M|WARS_uc001yhg.1_Missense_Mutation_p.L403M|WARS_uc001yhh.1_Missense_Mutation_p.L403M|WARS_uc001yhi.1_Missense_Mutation_p.L362M|WARS_uc001yhj.1_Missense_Mutation_p.L362M|WARS_uc001yhk.1_Missense_Mutation_p.L362M|WARS_uc001yhl.1_Missense_Mutation_p.L403M	NM_173701	NP_776049	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase isoform a	403					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(1)	1		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	AAGAAGGTCAGGTACATGAAA	0.582												
RTL1	388015	broad.mit.edu	37	14	101347477	101347477	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:101347477T>C	uc010txj.1	-	1	3708	c.3649A>G	c.(3649-3651)AAC>GAC	p.N1217D	MIR433_hsa-mir-433|MI0001723_5'Flank|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1217										pancreas(1)	1						AGGTAGCGGTTCTGACGCAGG	0.617												
DYNC1H1	1778	broad.mit.edu	37	14	102505979	102505979	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:102505979C>T	uc001yks.2	+	62	11764	c.11600C>T	c.(11599-11601)GCG>GTG	p.A3867V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3867					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TCCCAGGTGGCGTTTAACCGA	0.577												
RCOR1	23186	broad.mit.edu	37	14	103174911	103174911	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:103174911G>A	uc001ymb.2	+	6	761	c.761G>A	c.(760-762)CGG>CAG	p.R254Q		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	254	Interaction with HDAC1.|Potential.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			ovary(1)	1						AAACGGGAGCGGGAGGAGAGG	0.473												
TRAF3	7187	broad.mit.edu	37	14	103372097	103372097	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:103372097T>C	uc001ymc.1	+	12	2036	c.1683T>C	c.(1681-1683)GAT>GAC	p.D561D	TRAF3_uc001yme.1_Silent_p.D536D|TRAF3_uc001ymd.1_Silent_p.D561D|TRAF3_uc010txy.1_Silent_p.D478D	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3 isoform 1	561					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TCATAGTGGATACTTCGGATC	0.453												
CDC42BPB	9578	broad.mit.edu	37	14	103449935	103449935	+	Silent	SNP	C	C	T	rs143958594		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:103449935C>T	uc001ymi.1	-	7	1081	c.849G>A	c.(847-849)GCG>GCA	p.A283A		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	283	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CGAGTGACTCCGCATAAAACG	0.483												
EIF5	1983	broad.mit.edu	37	14	103803104	103803104	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:103803104C>T	uc001ymq.2	+	5	767	c.245C>T	c.(244-246)GCG>GTG	p.A82V	EIF5_uc001ymr.2_Missense_Mutation_p.A82V|EIF5_uc001yms.2_Missense_Mutation_p.A82V|EIF5_uc001ymt.2_Missense_Mutation_p.A82V|EIF5_uc001ymu.2_Missense_Mutation_p.A82V|SNORA28_uc001ymv.1_5'Flank	NM_001969	NP_001960	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	82					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			pancreas(1)|breast(1)|skin(1)	3		Melanoma(154;0.155)	Epithelial(46;0.182)			TCTCATGAGGCGAATAAGCTG	0.388												
KIAA0284	283638	broad.mit.edu	37	14	105353975	105353975	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:105353975C>T	uc010axb.2	+	12	3623	c.3399C>T	c.(3397-3399)GAC>GAT	p.D1133D	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.D1063D|KIAA0284_uc001yps.2_Silent_p.D1039D|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	1133						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GGCTGGGGGACGCTTCAGACA	0.726												
AHNAK2	113146	broad.mit.edu	37	14	105404879	105404879	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:105404879G>A	uc010axc.1	-	7	17029	c.16909C>T	c.(16909-16911)CCA>TCA	p.P5637S	AHNAK2_uc001ypx.2_Missense_Mutation_p.P5537S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5637						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTACTTTCTGGTTTGTCTTTT	0.458												
AHNAK2	113146	broad.mit.edu	37	14	105414444	105414444	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:105414444G>A	uc010axc.1	-	7	7464	c.7344C>T	c.(7342-7344)AGC>AGT	p.S2448S	AHNAK2_uc001ypx.2_Silent_p.S2348S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2448						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCACCTCCACGCTGGGCTGAG	0.632												
BTBD6	90135	broad.mit.edu	37	14	105716119	105716119	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:105716119G>A	uc010tyq.1	+	5	676	c.568G>A	c.(568-570)GTC>ATC	p.V190I	BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc010axg.1_Intron|BRF1_uc001yqp.2_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	BTB domain protein BDPL	190						cytoplasmic mRNA processing body					0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		GAACGCCTGCGTCCTGCTGTC	0.592												
SNRPN	6638	broad.mit.edu	37	15	25222952	25222952	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:25222952G>A	uc001ywp.1	+	11	1338	c.448G>A	c.(448-450)GTA>ATA	p.V150I	SNRPN_uc001ywq.1_Missense_Mutation_p.V150I|SNRPN_uc001ywr.1_Missense_Mutation_p.V150I|SNRPN_uc001yws.1_Missense_Mutation_p.V150I|SNRPN_uc001ywt.1_Missense_Mutation_p.V150I|SNRPN_uc001ywv.1_Missense_Mutation_p.V153I|SNRPN_uc001yww.1_Missense_Mutation_p.V150I|SNRPN_uc001ywx.1_Missense_Mutation_p.V150I|SNRPN_uc001ywz.1_RNA|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	150					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		AAGAGGCACTGTAGCAGCTGC	0.552									Prader-Willi_syndrome			
SNRPN	6638	broad.mit.edu	37	15	25223418	25223418	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:25223418T>C	uc001ywp.1	+	12	1528	c.638T>C	c.(637-639)ATA>ACA	p.I213T	SNRPN_uc001ywq.1_Missense_Mutation_p.I213T|SNRPN_uc001ywr.1_Missense_Mutation_p.I213T|SNRPN_uc001yws.1_Missense_Mutation_p.I213T|SNRPN_uc001ywt.1_Missense_Mutation_p.I213T|SNRPN_uc001ywv.1_Missense_Mutation_p.I216T|SNRPN_uc001yww.1_Missense_Mutation_p.I213T|SNRPN_uc001ywx.1_Missense_Mutation_p.I213T|SNRPN_uc001ywz.1_RNA|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	213	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGGACGCCAATAGGCATGCCG	0.562									Prader-Willi_syndrome			
ATP10A	57194	broad.mit.edu	37	15	25924992	25924992	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:25924992C>A	uc010ayu.2	-	21	4102	c.3996G>T	c.(3994-3996)AAG>AAT	p.K1332N		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1332	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTCCCGAGTCCTTCGGGAGGC	0.602												
HERC2	8924	broad.mit.edu	37	15	28361854	28361854	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:28361854C>T	uc001zbj.2	-	88	13672	c.13566G>A	c.(13564-13566)CCG>CCA	p.P4522P	HERC2_uc001zbi.2_Silent_p.P211P	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4522	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCTGGCGGCCGGGCTGAGCA	0.632												
HERC2	8924	broad.mit.edu	37	15	28412940	28412940	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:28412940C>T	uc001zbj.2	-	68	10553	c.10447G>A	c.(10447-10449)GCA>ACA	p.A3483T		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3483					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGAGTCACTGCAGAGGGGGTC	0.522												
HERC2	8924	broad.mit.edu	37	15	28422219	28422219	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:28422219A>G	uc001zbj.2	-	61	9415	c.9309T>C	c.(9307-9309)GAT>GAC	p.D3103D		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3103	RCC1 8.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACAGGCGATATCCCGGATAC	0.557												
HERC2	8924	broad.mit.edu	37	15	28427565	28427565	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:28427565G>A	uc001zbj.2	-	57	9025	c.8919C>T	c.(8917-8919)GGC>GGT	p.G2973G		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2973	RCC1 6.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTTCAGCCCGCCCAGCTGGT	0.552												
TJP1	7082	broad.mit.edu	37	15	30019134	30019134	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:30019134C>A	uc001zcr.2	-	17	2637	c.2162G>T	c.(2161-2163)TGG>TTG	p.W721L	TJP1_uc010azl.2_Missense_Mutation_p.W709L|TJP1_uc001zcq.2_Missense_Mutation_p.W725L|TJP1_uc001zcs.2_Missense_Mutation_p.W721L	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	721	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AATTGGATACCACTGGGCATA	0.358												
TJP1	7082	broad.mit.edu	37	15	30065520	30065520	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:30065520C>T	uc001zcr.2	-	3	600	c.125G>A	c.(124-126)CGA>CAA	p.R42Q	TJP1_uc010azl.2_Missense_Mutation_p.R30Q|TJP1_uc001zcq.2_Missense_Mutation_p.R46Q|TJP1_uc001zcs.2_Missense_Mutation_p.R42Q	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	42	PDZ 1.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGGATTATCTCGTCCACCAGA	0.368												
KLF13	51621	broad.mit.edu	37	15	31664455	31664455	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:31664455C>T	uc001zfo.2	+	2	1153	c.820C>T	c.(820-822)CGC>TGC	p.R274C		NM_015995	NP_057079	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	274	Ser-rich.				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding				0		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		CGACTACAGCCGCTCCGACGC	0.736												
OTUD7A	161725	broad.mit.edu	37	15	31851311	31851311	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:31851311G>A	uc001zfq.2	-	3	504	c.411C>T	c.(409-411)TGC>TGT	p.C137C	OTUD7A_uc001zfr.2_Silent_p.C137C|OTUD7A_uc001zfs.1_RNA|OTUD7A_uc010baa.1_Silent_p.C137C	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	137						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCTCGTTGTTGCATTCACTTG	0.582												
FMN1	342184	broad.mit.edu	37	15	33261465	33261465	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:33261465G>A	uc001zhf.3	-	4	1768	c.1768C>T	c.(1768-1770)CTC>TTC	p.L590F		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	813	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CAGGGCTTGAGGAAGGTCTCT	0.463												
RYR3	6263	broad.mit.edu	37	15	33795832	33795832	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:33795832T>C	uc001zhi.2	+	3	242	c.172T>C	c.(172-174)TAC>CAC	p.Y58H	RYR3_uc010bar.2_Missense_Mutation_p.Y58H	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	58	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATTTCCACAGTACATTCCTCC	0.453												
RYR3	6263	broad.mit.edu	37	15	34149996	34149996	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:34149996G>A	uc001zhi.2	+	99	14093	c.14023G>A	c.(14023-14025)GGT>AGT	p.G4675S	RYR3_uc010bar.2_Missense_Mutation_p.G4670S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4675	Helical; Name=M8; (Potential).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTGACTGTCGGTCTCCTGGC	0.478												
AVEN	57099	broad.mit.edu	37	15	34159952	34159952	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:34159952C>T	uc001zhj.2	-	5	773	c.717G>A	c.(715-717)GGG>GGA	p.G239G		NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	cell death regulator aven	239					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			kidney(1)	1		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		CAAAGATGGGCCCCCTTCCTC	0.542												
PGBD4	161779	broad.mit.edu	37	15	34395002	34395002	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:34395002C>T	uc001zho.2	+	1	729	c.270C>T	c.(268-270)GGC>GGT	p.G90G	C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	90											0		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		ACTTTACCGGCACACCTGGCA	0.418												
RASGRP1	10125	broad.mit.edu	37	15	38798066	38798066	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:38798066C>T	uc001zke.3	-	10	1476	c.1298G>A	c.(1297-1299)CGG>CAG	p.R433Q	RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Missense_Mutation_p.R295Q|RASGRP1_uc010bbg.2_Missense_Mutation_p.R295Q|RASGRP1_uc001zkd.3_Missense_Mutation_p.R433Q	NM_005739	NP_005730	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 isoform a	433	Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			large_intestine(1)|ovary(1)	2		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CCTTGGTTCCCGGGCATAGGA	0.443												
RASGRP1	10125	broad.mit.edu	37	15	38805064	38805064	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:38805064A>G	uc001zke.3	-	7	947	c.769T>C	c.(769-771)TGG>CGG	p.W257R	RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Missense_Mutation_p.W119R|RASGRP1_uc010bbg.2_Missense_Mutation_p.W119R|RASGRP1_uc001zkd.3_Missense_Mutation_p.W257R	NM_005739	NP_005730	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 isoform a	257	Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			large_intestine(1)|ovary(1)	2		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AGTTGTACCCACTGGGAGATG	0.502												
EIF2AK4	440275	broad.mit.edu	37	15	40300240	40300240	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:40300240A>G	uc001zkm.1	+	25	3470	c.3420A>G	c.(3418-3420)GAA>GAG	p.E1140E	EIF2AK4_uc010bbj.1_Silent_p.E841E|EIF2AK4_uc001zkn.1_Silent_p.E240E|EIF2AK4_uc001zko.1_Silent_p.E78E|EIF2AK4_uc010bbk.1_RNA	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	1140	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACTGCATAGAACGTGTGTTCA	0.388												
BUB1B	701	broad.mit.edu	37	15	40501868	40501868	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:40501868T>C	uc001zkx.3	+	17	2388	c.2176T>C	c.(2176-2178)TAT>CAT	p.Y726H		NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	726					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GTGTTCACAGTATCGCAGACA	0.413			Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome			
DISP2	85455	broad.mit.edu	37	15	40659836	40659836	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:40659836G>A	uc001zlk.1	+	8	1612	c.1523G>A	c.(1522-1524)CGC>CAC	p.R508H		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	508	SSD.				smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CTGTACCTGCGCTCACTCTTC	0.622												
ZFYVE19	84936	broad.mit.edu	37	15	41105975	41105975	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:41105975G>A	uc001zmt.1	+	9	1689	c.1175G>A	c.(1174-1176)CGA>CAA	p.R392Q	ZFYVE19_uc001zmu.1_Missense_Mutation_p.R324Q|ZFYVE19_uc001zmv.1_Missense_Mutation_p.R217Q|ZFYVE19_uc001zmw.1_Missense_Mutation_p.R217Q|ZFYVE19_uc001zmx.1_Missense_Mutation_p.R217Q|ZFYVE19_uc010bcc.1_Missense_Mutation_p.R217Q	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	392							zinc ion binding				0		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CAGGCTTCTCGACCCTGGACG	0.612												
EXD1	161829	broad.mit.edu	37	15	41476734	41476734	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:41476734G>A	uc001znk.2	-	10	1131	c.940C>T	c.(940-942)CGC>TGC	p.R314C	EXD1_uc001znj.2_Missense_Mutation_p.R112C|EXD1_uc010ucv.1_Missense_Mutation_p.R372C	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	314					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1						TTCTCCCTGCGCTGCTTCTGG	0.453												
TYRO3	7301	broad.mit.edu	37	15	41865979	41865979	+	Missense_Mutation	SNP	C	C	T	rs145529129	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:41865979C>T	uc001zof.1	+	18	2472	c.2248C>T	c.(2248-2250)CGC>TGC	p.R750C		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	750	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGGCGGGAACCGCCTGAAACA	0.562												
MAPKBP1	23005	broad.mit.edu	37	15	42109837	42109837	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:42109837G>A	uc001zok.3	+	17	2112	c.1826G>A	c.(1825-1827)CGG>CAG	p.R609Q	MAPKBP1_uc001zoj.3_Missense_Mutation_p.R603Q|MAPKBP1_uc010bcj.2_Missense_Mutation_p.R110Q|MAPKBP1_uc010bci.2_Missense_Mutation_p.R603Q|MAPKBP1_uc010udb.1_Missense_Mutation_p.R442Q|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.R110Q	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	609										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CAGTTCACACGGACACACCAC	0.607												
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42126974	42126974	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:42126974A>G	uc001zoo.3	+	2	141	c.101A>G	c.(100-102)AAA>AGA	p.K34R	JMJD7-PLA2G4B_uc010bcm.1_RNA|JMJD7-PLA2G4B_uc001zom.2_Intron|JMJD7-PLA2G4B_uc001zon.2_Missense_Mutation_p.K34R|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.K34R|JMJD7-PLA2G4B_uc001zop.1_5'UTR|JMJD7-PLA2G4B_uc001zoq.3_5'Flank	NM_005090	NP_005081	P0C869	PA24B_HUMAN	JMJD7-PLA2G4B protein	Error:Variant_position_missing_in_P0C869_after_alignment					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						TACCTGGACAAACCCCCAACT	0.612												
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42139594	42139594	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:42139594G>A	uc010bco.2	+	19	2108	c.2007G>A	c.(2005-2007)TCG>TCA	p.S669S	JMJD7-PLA2G4B_uc001zoo.3_Silent_p.S900S|JMJD7-PLA2G4B_uc010bcn.2_Intron|JMJD7-PLA2G4B_uc001zoq.3_Silent_p.S370S	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	669	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						CACCCATCTCGCCCAGCCCCG	0.692												
ZFP106	64397	broad.mit.edu	37	15	42710116	42710116	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:42710116C>A	uc001zpw.2	-	18	5817	c.5482G>T	c.(5482-5484)GAT>TAT	p.D1828Y	ZFP106_uc001zpu.2_Missense_Mutation_p.D926Y|ZFP106_uc001zpv.2_Missense_Mutation_p.D1013Y|ZFP106_uc001zpx.2_Missense_Mutation_p.D1056Y	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1828	C2H2-type 2; atypical.					nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TTTAAATGATCTACAACGCCA	0.458												
ZFP106	64397	broad.mit.edu	37	15	42742066	42742066	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:42742066G>A	uc001zpw.2	-	2	2670	c.2335C>T	c.(2335-2337)CGG>TGG	p.R779W	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.R562W|ZFP106_uc001zpy.1_Missense_Mutation_p.R802W	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	779						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		AGAATCTGCCGTAGGGTTGGC	0.507												
TTBK2	146057	broad.mit.edu	37	15	43120161	43120161	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:43120161G>A	uc001zqo.2	-	6	941	c.502C>T	c.(502-504)CGA>TGA	p.R168*	TTBK2_uc010bcy.2_Nonsense_Mutation_p.R99*|TTBK2_uc001zqp.2_Nonsense_Mutation_p.R168*|TTBK2_uc010bcz.1_Intron	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	168	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GTAAATTGTCGAGCCAAGCCA	0.333												
UBR1	197131	broad.mit.edu	37	15	43351982	43351982	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:43351982T>C	uc001zqq.2	-	8	969	c.903A>G	c.(901-903)GAA>GAG	p.E301E	UBR1_uc010udk.1_Silent_p.E301E	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	301					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGTGTAATACTTCTACATGAA	0.353												
TMEM62	80021	broad.mit.edu	37	15	43452973	43452973	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:43452973G>A	uc001zqr.2	+	10	1556	c.1277G>A	c.(1276-1278)CGT>CAT	p.R426H	TMEM62_uc010bda.2_Missense_Mutation_p.R296H|TMEM62_uc001zqt.2_5'UTR	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	426						integral to membrane				ovary(1)|breast(1)	2		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TTTATTCTCCGTACTGATCAC	0.289												
EPB42	2038	broad.mit.edu	37	15	43500944	43500944	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:43500944C>T	uc001zra.3	-	7	1162	c.862G>A	c.(862-864)GTG>ATG	p.V288M	EPB42_uc001zqz.3_Translation_Start_Site|EPB42_uc010bde.2_Missense_Mutation_p.V133M|EPB42_uc001zrb.3_Missense_Mutation_p.V318M|EPB42_uc010udm.1_Missense_Mutation_p.V210M	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	288					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			ovary(2)	2		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GTGGTCACCACGCGGGCAGGG	0.612												
LCMT2	9836	broad.mit.edu	37	15	43620638	43620638	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:43620638C>T	uc001zrg.2	-	1	2254	c.2050G>A	c.(2050-2052)GCT>ACT	p.A684T	LCMT2_uc010udn.1_Missense_Mutation_p.A263T|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	684					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TACTGCCCAGCACTTAAGGAA	0.458												
MAP1A	4130	broad.mit.edu	37	15	43814218	43814218	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:43814218A>G	uc001zrt.2	+	4	1014	c.547A>G	c.(547-549)ACC>GCC	p.T183A		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	183						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGTCAGCAATACCATTGAGCC	0.552												
B2M	567	broad.mit.edu	37	15	45003747	45003747	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:45003747G>A	uc001zuc.2	+	1	63	c.3G>A	c.(1-3)ATG>ATA	p.M1I	B2M_uc010uek.1_Missense_Mutation_p.M1I|B2M_uc010bdx.1_Missense_Mutation_p.M1I	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	1					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.M1V(2)		ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GGGCCGAGATGTCTCGCTCCG	0.612												
DUOX1	53905	broad.mit.edu	37	15	45444205	45444205	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:45444205G>A	uc001zus.1	+	25	3494	c.3148G>A	c.(3148-3150)GTG>ATG	p.V1050M	DUOX1_uc001zut.1_Missense_Mutation_p.V1050M|DUOX1_uc010bee.1_Missense_Mutation_p.V430M|DUOX1_uc001zuu.2_Missense_Mutation_p.V192M	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1050	Helical; (Potential).|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGCGTGGCCGTGTTCTACGC	0.587												
FBN1	2200	broad.mit.edu	37	15	48703365	48703365	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:48703365C>T	uc001zwx.1	-	66	8766	c.8438G>A	c.(8437-8439)AGC>AAC	p.S2813N	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2813					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTGGAGGTAGCTGATCCCTTC	0.388												
FBN1	2200	broad.mit.edu	37	15	48829944	48829944	+	Silent	SNP	G	G	A	rs25389		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:48829944G>A	uc001zwx.1	-	7	928	c.600C>T	c.(598-600)AGC>AGT	p.S200S		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	200	TB 1.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGACAATCCCGCTGAGTTGTC	0.527												
ATP8B4	79895	broad.mit.edu	37	15	50336843	50336843	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:50336843G>T	uc001zxu.2	-	5	390	c.248C>A	c.(247-249)CCT>CAT	p.P83H	ATP8B4_uc010ber.2_5'UTR|ATP8B4_uc010ufd.1_5'UTR|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	83	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CAGGACCAAAGGCACAATGGT	0.383												
HDC	3067	broad.mit.edu	37	15	50544656	50544656	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:50544656C>T	uc001zxz.2	-	9	1118	c.1012G>A	c.(1012-1014)GCC>ACC	p.A338T	HDC_uc001zxy.2_Missense_Mutation_p.A81T|HDC_uc010uff.1_Missense_Mutation_p.A338T	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	338					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CCTGAGTTGGCATGCCTGAGG	0.597												
GABPB1	2553	broad.mit.edu	37	15	50595164	50595164	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:50595164T>C	uc001zyb.2	-	4	857	c.433A>G	c.(433-435)ATA>GTA	p.I145V	GABPB1_uc001zya.2_Missense_Mutation_p.I145V|GABPB1_uc010ufg.1_Missense_Mutation_p.I69V|GABPB1_uc001zyc.2_Missense_Mutation_p.I145V|GABPB1_uc001zyd.2_Missense_Mutation_p.I145V|GABPB1_uc001zye.2_Missense_Mutation_p.I145V|GABPB1_uc001zyf.2_Missense_Mutation_p.I145V	NM_005254	NP_005245	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta	145	ANK 5.				positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)	1						CCATTGTCTATTGAAATATCA	0.318												
GLDN	342035	broad.mit.edu	37	15	51696681	51696681	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:51696681C>T	uc002aba.2	+	10	1555	c.1386C>T	c.(1384-1386)CAC>CAT	p.H462H	GLDN_uc002abb.2_Silent_p.H338H	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	462	Extracellular (Potential).|Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TGGTGCAACACGTCAATACCA	0.483												
DMXL2	23312	broad.mit.edu	37	15	51868358	51868358	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:51868358A>G	uc002abf.2	-	2	333	c.108T>C	c.(106-108)GAT>GAC	p.D36D	DMXL2_uc010ufy.1_Silent_p.D36D|DMXL2_uc010bfa.2_Silent_p.D36D|DMXL2_uc002abg.2_Silent_p.D36D	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	36						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		AAATAACAATATCACAGCCTG	0.308												
TCF12	6938	broad.mit.edu	37	15	57565312	57565312	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:57565312A>G	uc002aec.2	+	18	2042	c.1758A>G	c.(1756-1758)GAA>GAG	p.E586E	TCF12_uc010ugm.1_Silent_p.E638E|TCF12_uc010ugn.1_Silent_p.E606E|TCF12_uc002aea.2_Silent_p.E610E|TCF12_uc010bfs.2_Silent_p.E7E|TCF12_uc002aeb.2_Silent_p.E610E|TCF12_uc002aed.2_Silent_p.E586E|TCF12_uc002aee.2_Silent_p.E416E|TCF12_uc010bft.2_Silent_p.E440E|TCF12_uc010ugo.1_Silent_p.E350E|TCF12_uc010ugp.1_Silent_p.E243E|TCF12_uc010ugq.1_Silent_p.E220E|TCF12_uc010ugr.1_Silent_p.E199E	NM_207038	NP_996921	Q99081	HTF4_HUMAN	transcription factor 12 isoform b	586	Basic motif.				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATGCCAGAGAACGCTTACGCG	0.423			T	TEC	extraskeletal myxoid chondrosarcoma							
GCOM1	145781	broad.mit.edu	37	15	57896485	57896485	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:57896485C>T	uc002aei.2	+	2	213	c.94C>T	c.(94-96)CGG>TGG	p.R32W	GCOM1_uc002aej.2_Missense_Mutation_p.R32W|GCOM1_uc002aek.2_RNA|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Missense_Mutation_p.R32W|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Missense_Mutation_p.R32W|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	GRINL1A upstream protein isoform 7	32					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				ovary(1)	1						TTGCAGACTACGGCTGACCGT	0.507												
GCOM1	145781	broad.mit.edu	37	15	57924693	57924693	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:57924693G>A	uc002aei.2	+	7	859	c.740G>A	c.(739-741)AGC>AAC	p.S247N	GCOM1_uc002aej.2_Missense_Mutation_p.S247N|GCOM1_uc002aek.2_RNA|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Missense_Mutation_p.S247N|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Missense_Mutation_p.S247N|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	GRINL1A upstream protein isoform 7	247	Potential.				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				ovary(1)	1						AAGCTGTACAGCCAGTATGAG	0.502												
LIPC	3990	broad.mit.edu	37	15	58853170	58853170	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:58853170C>T	uc010bga.1	+	9	1767	c.1159C>T	c.(1159-1161)CCC>TCC	p.P387S	LIPC_uc010bfz.1_Missense_Mutation_p.P387S|LIPC_uc002afa.1_Missense_Mutation_p.P387S|LIPC_uc010bgb.1_Missense_Mutation_p.P285S|LIPC_uc010ugy.1_Missense_Mutation_p.P326S	NM_000236	NP_000227	P11150	LIPC_HUMAN	lipase C precursor	387	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			ovary(1)	1		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GCAGAAAATTCCCATCACTCT	0.408												
LIPC	3990	broad.mit.edu	37	15	58855922	58855922	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:58855922G>T	uc010bga.1	+	10	1996	c.1388G>T	c.(1387-1389)AGA>ATA	p.R463I	LIPC_uc010bfz.1_3'UTR|LIPC_uc002afa.1_Missense_Mutation_p.R463I|LIPC_uc010bgb.1_Missense_Mutation_p.R361M|LIPC_uc010ugy.1_Missense_Mutation_p.R402I	NM_000236	NP_000227	P11150	LIPC_HUMAN	lipase C precursor	463	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			ovary(1)	1		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		ACCCAGCAAAGGTGACTGCTG	0.343												
MYO1E	4643	broad.mit.edu	37	15	59430514	59430514	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:59430514G>A	uc002aga.2	-	27	3505	c.3133C>T	c.(3133-3135)CCC>TCC	p.P1045S		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	1045					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)		TTGGGCTGGGGCTTGGGTCTG	0.587											OREG0023155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RORA	6095	broad.mit.edu	37	15	60806876	60806876	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:60806876A>G	uc002agv.2	-	5	618	c.462T>C	c.(460-462)AGT>AGC	p.S154S	uc002ags.1_Intron|RORA_uc002agt.3_Silent_p.S66S|RORA_uc002agw.2_Silent_p.S146S|RORA_uc002agx.2_Silent_p.S121S	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	154	NR C4-type.|Nuclear receptor.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						AGCGGTTTCTACTGGTTCGAT	0.473												
VPS13C	54832	broad.mit.edu	37	15	62173044	62173044	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:62173044G>A	uc002agz.2	-	72	9960	c.9886C>T	c.(9886-9888)CGG>TGG	p.R3296W	VPS13C_uc002aha.2_Missense_Mutation_p.R3253W|VPS13C_uc002ahb.1_Missense_Mutation_p.R3296W|VPS13C_uc002ahc.1_Missense_Mutation_p.R3253W	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3296					protein localization					ovary(2)	2						ATTTTTACCCGTCTTCTTTCA	0.318												
TLN2	83660	broad.mit.edu	37	15	62989915	62989915	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:62989915C>T	uc002alb.3	+	12	1321	c.1321C>T	c.(1321-1323)CGG>TGG	p.R441W		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	441					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GCAGTTCAACCGGACCGGGAA	0.627												
LACTB	114294	broad.mit.edu	37	15	63421745	63421745	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:63421745T>C	uc002alw.2	+	5	1053	c.1014T>C	c.(1012-1014)GCT>GCC	p.A338A	LACTB_uc002alv.2_Silent_p.A338A	NM_032857	NP_116246	P83111	LACTB_HUMAN	lactamase, beta isoform a	338						mitochondrion	hydrolase activity				0						TAGAGAGAGCTTCAGGATGTA	0.383												
HERC1	8925	broad.mit.edu	37	15	63933787	63933787	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:63933787G>A	uc002amp.2	-	60	11637	c.11489C>T	c.(11488-11490)GCA>GTA	p.A3830V		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3830					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						CCTACAGGTTGCCAAAACATG	0.433												
SNX22	79856	broad.mit.edu	37	15	64444886	64444886	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:64444886A>G	uc002anc.1	+	3	268	c.209A>G	c.(208-210)AAC>AGC	p.N70S	SNX22_uc002amz.1_Missense_Mutation_p.N42S|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA	NM_024798	NP_079074	Q96L94	SNX22_HUMAN	sorting nexin 22	70	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding				0						CGCCTGCCCAACTGGAGGACC	0.602												
PIF1	80119	broad.mit.edu	37	15	65108793	65108793	+	Missense_Mutation	SNP	G	G	A	rs147060511		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:65108793G>A	uc002ant.2	-	12	1912	c.1846C>T	c.(1846-1848)CGG>TGG	p.R616W	PIF1_uc002anr.2_Missense_Mutation_p.R164W|PIF1_uc002ans.2_Missense_Mutation_p.R307W|PIF1_uc010uiq.1_Missense_Mutation_p.R616W	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	616	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding				0						CTCCTGCCCCGCCGCAGGGTG	0.677												
C15orf44	81556	broad.mit.edu	37	15	65891328	65891328	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:65891328G>A	uc002apd.2	-	5	823	c.487C>T	c.(487-489)CTC>TTC	p.L163F	C15orf44_uc010uix.1_Missense_Mutation_p.L199F|C15orf44_uc010uiz.1_Missense_Mutation_p.L127F|C15orf44_uc010uja.1_Missense_Mutation_p.L114F|C15orf44_uc010ujb.1_Missense_Mutation_p.L84F|C15orf44_uc002ape.3_Missense_Mutation_p.L163F|C15orf44_uc010uiy.1_Missense_Mutation_p.L84F	NM_030800	NP_110427	Q96SY0	CO044_HUMAN	hypothetical protein LOC81556 isoform 2	163	VWFA.									ovary(1)	1						GTGCTCTGGAGCTATAAAGCA	0.423												
LCTL	197021	broad.mit.edu	37	15	66844070	66844070	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:66844070C>T	uc002aqc.2	-	11	1586	c.1454G>A	c.(1453-1455)CGC>CAC	p.R485H	LCTL_uc002aqd.3_Missense_Mutation_p.R312H|LCTL_uc010bhw.2_Intron	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	lactase-like precursor	485	Extracellular (Potential).				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(2)	2						CTTTGGATAGCGAGGCTTATT	0.373												
LBXCOR1	390598	broad.mit.edu	37	15	68119417	68119417	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:68119417C>T	uc002aqy.1	+	3	1119	c.1119C>T	c.(1117-1119)GGC>GGT	p.G373G		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	417					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						TAGGCGCGGGCGAGCCAAAGG	0.403												
PIAS1	8554	broad.mit.edu	37	15	68438952	68438952	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:68438952C>T	uc002aqz.2	+	6	838	c.742C>T	c.(742-744)CGA>TGA	p.R248*	PIAS1_uc010ujx.1_Nonsense_Mutation_p.R248*	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	248	PINIT.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2						GCGACCCAGCCGACCAATTAA	0.363												
PIAS1	8554	broad.mit.edu	37	15	68445989	68445989	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:68445989T>C	uc002aqz.2	+	7	986	c.890T>C	c.(889-891)TTA>TCA	p.L297S	PIAS1_uc010ujx.1_Missense_Mutation_p.L297S	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	297					androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2						CTTCAGAGGTTACGAGCAAAG	0.333												
GLCE	26035	broad.mit.edu	37	15	69560894	69560894	+	Nonsense_Mutation	SNP	G	G	T	rs143829672	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:69560894G>T	uc002ary.1	+	5	1393	c.1165G>T	c.(1165-1167)GGA>TGA	p.G389*		NM_015554	NP_056369	O94923	GLCE_HUMAN	D-glucuronyl C5-epimerase	389	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			ovary(2)	2						AAAAGGTAAGGGATTCCTCGA	0.463												
UACA	55075	broad.mit.edu	37	15	70963407	70963407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:70963407G>A	uc002asr.2	-	15	1296	c.1192C>T	c.(1192-1194)CAA>TAA	p.Q398*	UACA_uc010uke.1_Nonsense_Mutation_p.Q289*|UACA_uc002asq.2_Nonsense_Mutation_p.Q385*|UACA_uc010bin.1_Nonsense_Mutation_p.Q373*	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	398						cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						ATCTGACCTTGTTTAAGAAGC	0.244												
NR2E3	10002	broad.mit.edu	37	15	72103855	72103855	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:72103855G>A	uc002ati.2	+	2	341	c.151G>A	c.(151-153)GGA>AGA	p.G51R	NR2E3_uc002ath.1_Missense_Mutation_p.G51R	NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	photoreceptor-specific nuclear receptor isoform	51	NR C4-type.|Nuclear receptor.				phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0						CCGCGTGTGCGGAGACAGCAG	0.517												
C15orf59	388135	broad.mit.edu	37	15	74032580	74032580	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:74032580C>T	uc002avy.2	-	2	905	c.560G>A	c.(559-561)CGG>CAG	p.R187Q		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	hypothetical protein LOC388135	187										pancreas(1)	1						GTCACTGAACCGCACCCTCTC	0.488												
LOXL1	4016	broad.mit.edu	37	15	74240214	74240214	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:74240214G>A	uc002awc.1	+	5	1909	c.1573G>A	c.(1573-1575)GAC>AAC	p.D525N	LOXL1_uc002awd.1_RNA	NM_005576	NP_005567	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1 preproprotein	525	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding				0						CGACATAACCGACGTGCAGCC	0.577												
ISLR2	57611	broad.mit.edu	37	15	74426494	74426494	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:74426494T>C	uc002axd.2	+	4	2168	c.1399T>C	c.(1399-1401)TAC>CAC	p.Y467H	ISLR2_uc002axe.2_Missense_Mutation_p.Y467H|ISLR2_uc010bjg.2_Missense_Mutation_p.Y467H|ISLR2_uc010bjf.2_Missense_Mutation_p.Y467H	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	467	Extracellular (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CCCCTCTCGGTACGTTTCTAA	0.672												
STRA6	64220	broad.mit.edu	37	15	74472489	74472489	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:74472489G>T	uc002axk.2	-	19	2118	c.1936C>A	c.(1936-1938)CTG>ATG	p.L646M	STRA6_uc002axi.2_Missense_Mutation_p.L455M|STRA6_uc010ulh.1_Missense_Mutation_p.L684M|STRA6_uc002axj.2_Missense_Mutation_p.L685M|STRA6_uc010bji.2_Missense_Mutation_p.L646M|STRA6_uc002axl.2_Missense_Mutation_p.L578M|STRA6_uc002axm.2_Missense_Mutation_p.L646M|STRA6_uc002axn.2_Missense_Mutation_p.L637M|STRA6_uc010uli.1_Missense_Mutation_p.L683M	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid gene 6 homolog	646	Cytoplasmic (Potential).				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			central_nervous_system(1)	1						GGGTTGTGCAGCAGCGTGTAG	0.662												
ARID3B	10620	broad.mit.edu	37	15	74883692	74883692	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:74883692G>A	uc002aye.2	+	6	1283	c.1082G>A	c.(1081-1083)CGC>CAC	p.R361H	ARID3B_uc002ayd.2_Missense_Mutation_p.R361H|ARID3B_uc010bjs.1_Missense_Mutation_p.R66H	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B	361	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						CCCAAGATCCGCTTTCCCATC	0.632												
MAN2C1	4123	broad.mit.edu	37	15	75656966	75656966	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:75656966C>A	uc002baf.2	-	5	480	c.463G>T	c.(463-465)GGG>TGG	p.G155W	MAN2C1_uc002bag.2_Missense_Mutation_p.G155W|MAN2C1_uc002bah.2_Missense_Mutation_p.G155W|MAN2C1_uc010bkk.2_Missense_Mutation_p.G155W|MAN2C1_uc010umi.1_Intron|MAN2C1_uc010umj.1_RNA|MAN2C1_uc010umk.1_RNA	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	155					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						TTCCCGGCCCCCAGGAGCCCA	0.592												
SCAPER	49855	broad.mit.edu	37	15	76643603	76643603	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:76643603C>T	uc002bby.2	-	30	4133	c.4074G>A	c.(4072-4074)GCG>GCA	p.A1358A	SCAPER_uc010bkr.2_Silent_p.A616A|SCAPER_uc002bbx.2_Silent_p.A1112A	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1357						endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						GCTGGTTTTCCGCTTGACCTG	0.383												
CTSH	1512	broad.mit.edu	37	15	79231492	79231492	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:79231492C>A	uc002ben.2	-	3	174	c.77G>T	c.(76-78)TGG>TTG	p.W26L	CTSH_uc010unf.1_RNA|CTSH_uc010bll.1_Intron|CTSH_uc010ung.1_Missense_Mutation_p.W38L	NM_148979	NP_683880	P09668	CATH_HUMAN	cathepsin H isoform b precursor	38					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(2)|large_intestine(1)	3						CTTAGACATCCATGACTTGAA	0.363												
MESDC1	59274	broad.mit.edu	37	15	81295494	81295494	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:81295494C>T	uc002bfz.2	+	1	2200	c.882C>T	c.(880-882)AGC>AGT	p.S294S		NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	294											0						GCGCCATGAGCGTGGTGTCGG	0.706												
IL16	3603	broad.mit.edu	37	15	81593720	81593720	+	Missense_Mutation	SNP	C	C	T	rs149220649		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:81593720C>T	uc002bgh.3	+	15	3561	c.3185C>T	c.(3184-3186)ACG>ATG	p.T1062M	IL16_uc010blq.1_Missense_Mutation_p.T1016M|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.T1104M|IL16_uc002bgg.2_Missense_Mutation_p.T1062M|IL16_uc002bgi.1_Missense_Mutation_p.T452M|IL16_uc002bgj.2_Missense_Mutation_p.T556M|IL16_uc002bgk.2_Missense_Mutation_p.T361M|IL16_uc002bgl.1_Missense_Mutation_p.T361M|IL16_uc010unq.1_Missense_Mutation_p.T361M	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	1062	Interaction with HTLV-1 tax.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						GAGGGTCTCACGGAAGCCAAG	0.408												
WHAMM	123720	broad.mit.edu	37	15	83502091	83502091	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:83502091G>A	uc002bje.2	+	10	2739	c.2233G>A	c.(2233-2235)GCT>ACT	p.A745T		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi	745	WH2 2.					cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding				0						GCACATTCTGGCTGCCATAAG	0.567												
BTBD1	53339	broad.mit.edu	37	15	83710649	83710649	+	Missense_Mutation	SNP	G	G	C	rs144730017		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:83710649G>C	uc002bjn.2	-	4	896	c.693C>G	c.(691-693)GAC>GAG	p.D231E	BTBD1_uc002bjo.2_Missense_Mutation_p.D231E	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1 isoform 1	231						cytoplasmic mRNA processing body|protein complex	protein binding			ovary(1)|central_nervous_system(1)	2				all cancers(203;0.000186)		TACTGAGTGTGTCTCTCTCTA	0.388												
ALPK3	57538	broad.mit.edu	37	15	85383636	85383636	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:85383636C>T	uc002ble.2	+	5	1899	c.1732C>T	c.(1732-1734)CGG>TGG	p.R578W		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	578					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGGGCTGCACGGGGGCCTGG	0.667												
AGBL1	123624	broad.mit.edu	37	15	87217585	87217585	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:87217585G>A	uc002blz.1	+	22	3081	c.3001G>A	c.(3001-3003)GCC>ACC	p.A1001T		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1001					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						GCTCAAATCTGCCAGCTGCAG	0.557												
NTRK3	4916	broad.mit.edu	37	15	88680751	88680751	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:88680751C>T	uc002bme.1	-	6	668	c.506G>A	c.(505-507)CGC>CAC	p.R169H	NTRK3_uc002bmh.2_Missense_Mutation_p.R169H|NTRK3_uc002bmf.1_Missense_Mutation_p.R169H|NTRK3_uc010upl.1_Missense_Mutation_p.R71H|NTRK3_uc010bnh.1_Missense_Mutation_p.R169H|NTRK3_uc002bmg.2_Missense_Mutation_p.R169H	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	169	Extracellular (Potential).|LRRCT.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGCATCCAGCGGATGTCACA	0.582			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)		
AEN	64782	broad.mit.edu	37	15	89172551	89172551	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:89172551G>A	uc002bmt.2	+	3	786	c.635G>A	c.(634-636)CGG>CAG	p.R212Q	AEN_uc010bnm.1_Missense_Mutation_p.R212Q	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	interferon stimulated exonuclease gene	212	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding				0						AGCCAGACCCGGGATACGACC	0.622												
POLG	5428	broad.mit.edu	37	15	89864087	89864087	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:89864087C>T	uc002bns.3	-	18	3173	c.2891G>A	c.(2890-2892)CGC>CAC	p.R964H	POLG_uc002bnr.3_Missense_Mutation_p.R964H	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	964					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CATTAGTAAGCGCTCAGCAAA	0.577								DNA_polymerases_(catalytic_subunits)				
POLG	5428	broad.mit.edu	37	15	89876391	89876391	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:89876391C>T	uc002bns.3	-	2	877	c.595G>A	c.(595-597)GTG>ATG	p.V199M	POLG_uc002bnr.3_Missense_Mutation_p.V199M	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	199					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CAGACCTCCACGTCGAACACC	0.697								DNA_polymerases_(catalytic_subunits)				
POLG	5428	broad.mit.edu	37	15	89876408	89876408	+	Missense_Mutation	SNP	C	C	T	rs3176162	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:89876408C>T	uc002bns.3	-	2	860	c.578G>A	c.(577-579)CGG>CAG	p.R193Q	POLG_uc002bnr.3_Missense_Mutation_p.R193Q	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	193					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CACCAGGGCCCGCTCCTCGGG	0.716								DNA_polymerases_(catalytic_subunits)				
ZNF710	374655	broad.mit.edu	37	15	90616474	90616474	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:90616474G>A	uc002bov.1	+	3	1753	c.1630G>A	c.(1630-1632)GTG>ATG	p.V544M		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			ACACTCGCCCGTGAAGCCATT	0.592												
UNC45A	55898	broad.mit.edu	37	15	91488239	91488239	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:91488239T>C	uc002bqg.2	+	9	1485	c.1145T>C	c.(1144-1146)CTC>CCC	p.L382P	UNC45A_uc002bqd.2_Missense_Mutation_p.L367P	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	382					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TTTGATGACCTCAAGTGTGAT	0.527												
MCTP2	55784	broad.mit.edu	37	15	94942207	94942207	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:94942207G>A	uc002btj.2	+	14	1871	c.1806G>A	c.(1804-1806)CCG>CCA	p.P602P	MCTP2_uc010boj.2_Silent_p.P331P|MCTP2_uc010bok.2_Silent_p.P602P|MCTP2_uc002btk.3_Silent_p.P190P|MCTP2_uc002btl.2_Silent_p.P190P	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	602					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATGGACAACCGAATTGTTATG	0.313												
SPATA8	145946	broad.mit.edu	37	15	97328284	97328284	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:97328284T>C	uc002bue.2	+	3	465	c.255T>C	c.(253-255)GCT>GCC	p.A85A	uc010urp.1_5'Flank|uc002bud.1_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	85										ovary(1)|skin(1)	2	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TGCCATCTGCTTCCCCACTGA	0.448												
IGF1R	3480	broad.mit.edu	37	15	99442758	99442758	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:99442758G>A	uc002bul.2	+	5	1205	c.1155G>A	c.(1153-1155)ACG>ACA	p.T385T	IGF1R_uc010urq.1_Silent_p.T385T|IGF1R_uc010bon.2_Silent_p.T385T	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	385					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AGGTGGTGACGGGCTACGTGA	0.507												
TTC23	64927	broad.mit.edu	37	15	99696478	99696478	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:99696478A>G	uc002bur.2	-	11	1549	c.1018T>C	c.(1018-1020)TCC>CCC	p.S340P	TTC23_uc002bus.2_Missense_Mutation_p.S340P|TTC23_uc002but.2_Missense_Mutation_p.S340P|TTC23_uc002buu.2_Missense_Mutation_p.S340P|TTC23_uc002buv.2_Missense_Mutation_p.S340P|TTC23_uc002bux.2_Missense_Mutation_p.S340P|TTC23_uc002buw.2_Missense_Mutation_p.S340P|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Missense_Mutation_p.S340P|TTC23_uc010bor.2_Missense_Mutation_p.S340P|TTC23_uc002buz.2_Missense_Mutation_p.S340P	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	340							binding				0	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GCTTCCAGGGACTCTCTCAGG	0.507												
LINS1	55180	broad.mit.edu	37	15	101112175	101112175	+	Missense_Mutation	SNP	G	G	A	rs140752023		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:101112175G>A	uc002bwe.2	-	7	1609	c.1318C>T	c.(1318-1320)CGG>TGG	p.R440W	LINS1_uc002bwd.2_Missense_Mutation_p.R27W|LINS1_uc002bwf.2_Missense_Mutation_p.R440W|LINS1_uc002bwg.2_Missense_Mutation_p.R440W|LINS1_uc002bwh.2_Missense_Mutation_p.R440W	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	lines homolog 1	440											0	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			ATGAAAACCCGAGACAGCCAT	0.433												
SNRPA1	6627	broad.mit.edu	37	15	101832204	101832204	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:101832204G>A	uc002bww.2	-	3	349	c.272C>T	c.(271-273)ACA>ATA	p.T91I	SNRPA1_uc002bwx.2_Intron|SNRPA1_uc010bpc.2_Intron	NM_003090	NP_003081	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	91	LRR 4.					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			kidney(1)	1	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AATGAGTTCTGTCAGACAGGG	0.383												
RHBDF1	64285	broad.mit.edu	37	16	112645	112645	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:112645C>T	uc002cfl.3	-	10	992	c.844G>A	c.(844-846)GAG>AAG	p.E282K	RHBDF1_uc010uty.1_Missense_Mutation_p.E305K|RHBDF1_uc010utz.1_Missense_Mutation_p.E282K|RHBDF1_uc010bqo.1_RNA	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	282	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GATGGGGACTCGAAAACTTCA	0.622												
PIGQ	9091	broad.mit.edu	37	16	624123	624123	+	Missense_Mutation	SNP	G	G	A	rs149108761		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:624123G>A	uc002cho.2	+	2	151	c.49G>A	c.(49-51)GGG>AGG	p.G17R	PIGQ_uc010bqw.2_Missense_Mutation_p.G17R|PIGQ_uc002chm.2_Missense_Mutation_p.G17R|PIGQ_uc002chn.2_Missense_Mutation_p.G17R|PIGQ_uc010uui.1_Missense_Mutation_p.G31R	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	17					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)	1		Hepatocellular(780;0.00335)				GACGGACAGCGGGCTGCTGGT	0.667												
PIGQ	9091	broad.mit.edu	37	16	624252	624252	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:624252G>A	uc002cho.2	+	2	280	c.178G>A	c.(178-180)GTG>ATG	p.V60M	PIGQ_uc010bqw.2_Missense_Mutation_p.V60M|PIGQ_uc002chm.2_Missense_Mutation_p.V60M|PIGQ_uc002chn.2_Missense_Mutation_p.V60M|PIGQ_uc010uui.1_Missense_Mutation_p.V74M	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	60					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)	1		Hepatocellular(780;0.00335)				CCAGGTGGGCGTGGCCGTGCT	0.701												
WFIKKN1	117166	broad.mit.edu	37	16	683446	683446	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:683446G>T	uc002cht.1	+	2	1278	c.1036G>T	c.(1036-1038)GCA>TCA	p.A346S	WFIKKN1_uc002chs.1_3'UTR	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz	346	BPTI/Kunitz inhibitor 1.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity				0		Hepatocellular(780;0.00335)				GACCTACGAGGCATGCCAGCA	0.746												
WDR90	197335	broad.mit.edu	37	16	700148	700148	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:700148A>G	uc002cii.1	+	3	314	c.260A>G	c.(259-261)CAC>CGC	p.H87R	WDR90_uc002cig.1_Missense_Mutation_p.H87R|WDR90_uc002cih.1_Missense_Mutation_p.H87R|WDR90_uc002cij.1_RNA	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	87										ovary(1)	1		Hepatocellular(780;0.0218)				TTCGTCATCCACCTCGATGTG	0.667												
HAGHL	84264	broad.mit.edu	37	16	779157	779157	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:779157G>A	uc002cjl.1	+	7	1143	c.862G>A	c.(862-864)GTG>ATG	p.V288M	CCDC78_uc002cji.3_5'Flank|CCDC78_uc002cjg.2_5'Flank|CCDC78_uc002cjj.3_5'Flank|CCDC78_uc002cjh.2_5'Flank|CCDC78_uc010uuo.1_5'Flank|CCDC78_uc002cjk.2_5'Flank|HAGHL_uc002cjm.1_3'UTR|HAGHL_uc002cjn.1_3'UTR|HAGHL_uc002cjo.1_Intron|HAGHL_uc010uup.1_3'UTR	NM_207112	NP_996995	Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like isoform 1	288							hydrolase activity|metal ion binding				0		Hepatocellular(780;0.00335)				TGGGGACTGCGTGTTGGGCTG	0.667												
NARFL	64428	broad.mit.edu	37	16	780543	780543	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:780543C>T	uc002cjr.2	-	11	1317	c.1305G>A	c.(1303-1305)GCG>GCA	p.A435A	NARFL_uc002cjp.2_Silent_p.A333A|NARFL_uc002cjq.2_Silent_p.A333A|NARFL_uc002cjs.2_Silent_p.A217A	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	435					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding				0		Hepatocellular(780;0.0218)				GAACCCCAGGCGCGTCCTCGG	0.677												
MSLNL	401827	broad.mit.edu	37	16	819623	819623	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:819623C>A	uc002cjz.1	-	16	2967	c.2967G>T	c.(2965-2967)TGG>TGT	p.W989C	MIR662_hsa-mir-662|MI0003670_5'Flank	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	638	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4						CCAGGGGGGCCCACAGGCTGC	0.652												
LMF1	64788	broad.mit.edu	37	16	1004665	1004665	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:1004665G>A	uc002ckj.2	-	2	199	c.195C>T	c.(193-195)TTC>TTT	p.F65F	LMF1_uc010brh.2_5'UTR|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_5'UTR|LMF1_uc010uuu.1_RNA|LMF1_uc010uuv.1_RNA	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	lipase maturation factor 1	65	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0		Hepatocellular(780;0.00308)				GGAATGCCACGACTGGAAGAA	0.547												
CACNA1H	8912	broad.mit.edu	37	16	1250483	1250483	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:1250483A>G	uc002cks.2	+	7	1279	c.1031A>G	c.(1030-1032)TAC>TGC	p.Y344C	CACNA1H_uc002ckt.2_Missense_Mutation_p.Y344C	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	344	Extracellular (Potential).|I.				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AACCAGTACTACAACGTGTGC	0.647												
CACNA1H	8912	broad.mit.edu	37	16	1270119	1270119	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:1270119C>T	uc002cks.2	+	35	6435	c.6187C>T	c.(6187-6189)CGG>TGG	p.R2063W	CACNA1H_uc002ckt.2_Missense_Mutation_p.R2057W|CACNA1H_uc002cku.2_Missense_Mutation_p.R758W|CACNA1H_uc010brj.2_Missense_Mutation_p.R774W|CACNA1H_uc002ckv.2_Missense_Mutation_p.R752W	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2063	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACGCTCCCCACGGCCCGCCAG	0.721												
CACNA1H	8912	broad.mit.edu	37	16	1270845	1270845	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:1270845C>T	uc002cks.2	+	35	7161	c.6913C>T	c.(6913-6915)CCC>TCC	p.P2305S	CACNA1H_uc002ckt.2_Missense_Mutation_p.P2299S|CACNA1H_uc002cku.2_Missense_Mutation_p.P1000S|CACNA1H_uc010brj.2_Missense_Mutation_p.P1016S|CACNA1H_uc002ckv.2_Missense_Mutation_p.P994S	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2305	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCCCCTGGAACCCCCAGAATC	0.632												
BAIAP3	8938	broad.mit.edu	37	16	1391476	1391476	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:1391476G>T	uc002clk.1	+	8	822	c.822G>T	c.(820-822)AAG>AAT	p.K274N	BAIAP3_uc002clj.2_Missense_Mutation_p.K256N|BAIAP3_uc010uuz.1_Missense_Mutation_p.K239N|BAIAP3_uc010uva.1_Missense_Mutation_p.K211N|BAIAP3_uc010uvb.1_Missense_Mutation_p.K291N|BAIAP3_uc010uvc.1_Missense_Mutation_p.K239N	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	274	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				CCGTCTGGAAGGAGCACTTCC	0.682												
CLCN7	1186	broad.mit.edu	37	16	1504428	1504428	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:1504428G>A	uc002clv.2	-	13	1247	c.1137C>T	c.(1135-1137)ATC>ATT	p.I379I	CLCN7_uc002clw.2_Silent_p.I355I	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	379	Helical; (By similarity).					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				CGCCCATGGCGATGAAGACCG	0.612												
NUBP2	10101	broad.mit.edu	37	16	1836922	1836922	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:1836922C>T	uc002cmw.3	+	3	389	c.300C>T	c.(298-300)GAC>GAT	p.D100D	NUBP2_uc002cmx.3_Intron|NUBP2_uc010brx.2_Silent_p.D40D	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2 (MinD homolog, E.	100						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding				0						AGAAGCCGGACGAGGCCGTGG	0.687												
TSC2	7249	broad.mit.edu	37	16	2138052	2138052	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:2138052T>C	uc002con.2	+	40	5178	c.5072T>C	c.(5071-5073)ATG>ACG	p.M1691T	TSC2_uc010bsd.2_Missense_Mutation_p.M1668T|TSC2_uc002coo.2_Missense_Mutation_p.M1624T|TSC2_uc010uvv.1_Missense_Mutation_p.M1588T|TSC2_uc010uvw.1_Missense_Mutation_p.M1576T|TSC2_uc002cop.2_Missense_Mutation_p.M1447T|TSC2_uc002coq.2_Missense_Mutation_p.M466T|TSC2_uc002cor.2_Missense_Mutation_p.M392T	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	1691	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				TCCCCAGACATGGAGGGCCTT	0.672			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis			
PKD1	5310	broad.mit.edu	37	16	2140589	2140589	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:2140589G>A	uc002cos.1	-	45	12350	c.12141C>T	c.(12139-12141)CTC>CTT	p.L4047L	PKD1_uc002cot.1_Silent_p.L4046L|MIR1225_hsa-mir-1225|MI0006311_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	4047	Helical; (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						AGGAAGACACGAGCTGCGGGG	0.667												
TRAF7	84231	broad.mit.edu	37	16	2222338	2222338	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:2222338C>T	uc002cow.2	+	8	721	c.622C>T	c.(622-624)CGA>TGA	p.R208*		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	208					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						GGTGGACCCCCGAGGGTGCCC	0.687												
CASKIN1	57524	broad.mit.edu	37	16	2230431	2230431	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:2230431G>A	uc010bsg.1	-	18	2970	c.2938C>T	c.(2938-2940)CGG>TGG	p.R980W		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	980	Pro-rich.				signal transduction	cytoplasm				skin(2)	2						CACTGTGCCCGGACCCCCAGC	0.711												
E4F1	1877	broad.mit.edu	37	16	2273712	2273712	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:2273712T>C	uc002cpm.2	+	1	146	c.98T>C	c.(97-99)GTG>GCG	p.V33A	E4F1_uc010bsi.2_Missense_Mutation_p.V33A|E4F1_uc010bsj.2_Missense_Mutation_p.V33A	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	33					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GTTGCGGCGGTGGCGGCGGCC	0.756												
ABCA3	21	broad.mit.edu	37	16	2376256	2376256	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:2376256G>A	uc002cpy.1	-	5	786	c.74C>T	c.(73-75)ACG>ATG	p.T25M	ABCA3_uc010bsk.1_Missense_Mutation_p.T25M|ABCA3_uc010bsl.1_Missense_Mutation_p.T25M|ABCA3_uc002cpz.1_Missense_Mutation_p.T25M	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	25	Helical; (Potential).				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				TTCCAGGACCGTCACCAGGAC	0.562												
FLYWCH1	84256	broad.mit.edu	37	16	2987385	2987385	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:2987385G>T	uc002csd.2	+	7	2140	c.1777G>T	c.(1777-1779)GAT>TAT	p.D593Y	FLYWCH1_uc002csb.2_Missense_Mutation_p.D592Y|FLYWCH1_uc002csc.2_Missense_Mutation_p.D592Y|FLYWCH1_uc010bsv.2_Missense_Mutation_p.D317Y|FLYWCH1_uc002cse.2_Missense_Mutation_p.D48Y	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1 isoform a	593						nucleus	DNA binding|metal ion binding				0						GGACAGCCCAGGTGCGTGTGG	0.697												
HCFC1R1	54985	broad.mit.edu	37	16	3073914	3073914	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3073914C>G	uc002csx.1	-	2	162	c.29G>C	c.(28-30)GGC>GCC	p.G10A	HCFC1R1_uc002csy.1_Missense_Mutation_p.G10A|HCFC1R1_uc002csz.1_Missense_Mutation_p.G10A|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002ctc.2_5'Flank|THOC6_uc002cta.2_5'Flank	NM_001002018	NP_001002018	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependant)	10						cytoplasm|nucleus					0						TCCCTGGGGGCCTCGCTGCAA	0.701												
ZNF205	7755	broad.mit.edu	37	16	3168973	3168973	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3168973C>T	uc002cub.2	+	6	687	c.552C>T	c.(550-552)AGC>AGT	p.S184S	ZNF205_uc002cua.2_Silent_p.S184S	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	184	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						CGGGCTCCAGCCGGCAGGCAG	0.667												
MEFV	4210	broad.mit.edu	37	16	3304265	3304265	+	Missense_Mutation	SNP	G	G	A	rs104895123		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3304265G>A	uc002cun.1	-	2	843	c.803C>T	c.(802-804)GCT>GTT	p.A268V		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	268					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	CAGATTCGCAGCTGTCTTTTC	0.562												
ZNF263	10127	broad.mit.edu	37	16	3340259	3340259	+	Missense_Mutation	SNP	C	C	T	rs138118006		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3340259C>T	uc002cuq.2	+	6	2085	c.1753C>T	c.(1753-1755)CGG>TGG	p.R585W	ZNF263_uc010uww.1_Missense_Mutation_p.R233W|ZNF263_uc002cur.2_Missense_Mutation_p.R233W	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	585	C2H2-type 6.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4						GAAAAGCTTCCGGCAGGGCAT	0.473												
BTBD12	84464	broad.mit.edu	37	16	3639367	3639367	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3639367G>A	uc002cvp.2	-	12	4899	c.4272C>T	c.(4270-4272)GAC>GAT	p.D1424D		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1424	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						AGCAGCAGTCGTCAATTGGAA	0.627								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia			
BTBD12	84464	broad.mit.edu	37	16	3644517	3644517	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3644517G>A	uc002cvp.2	-	10	2724	c.2097C>T	c.(2095-2097)AGC>AGT	p.S699S		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	699	BTB.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						GCACCTCCCCGCTGTCCGTCT	0.537								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia			
BTBD12	84464	broad.mit.edu	37	16	3647811	3647811	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3647811T>C	uc002cvp.2	-	6	1980	c.1353A>G	c.(1351-1353)ATA>ATG	p.I451M		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	451	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CTTCTGGTCTTATCCTCTCAG	0.607								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia			
CREBBP	1387	broad.mit.edu	37	16	3778834	3778834	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3778834G>A	uc002cvv.2	-	31	6418	c.6214C>T	c.(6214-6216)CGG>TGG	p.R2072W	CREBBP_uc002cvw.2_Missense_Mutation_p.R2034W	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2072					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTCAGGGTCCGCAGCAGGTCT	0.617			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
CREBBP	1387	broad.mit.edu	37	16	3781863	3781863	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3781863G>A	uc002cvv.2	-	29	5008	c.4804C>T	c.(4804-4806)CGC>TGC	p.R1602C	CREBBP_uc002cvw.2_Missense_Mutation_p.R1564C	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1602	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ttgttggcgcggctgatgctg	0.358			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
ADCY9	115	broad.mit.edu	37	16	4029167	4029167	+	Missense_Mutation	SNP	C	C	T	rs144986362		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:4029167C>T	uc002cvx.2	-	8	3168	c.2629G>A	c.(2629-2631)GCA>ACA	p.A877T		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	877	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						ACGGCCAGTGCGGGAAGCGAC	0.582												
ADCY9	115	broad.mit.edu	37	16	4165092	4165092	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:4165092A>G	uc002cvx.2	-	2	891	c.352T>C	c.(352-354)TAT>CAT	p.Y118H		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	118	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						AAGAGCGCATACCGGAACCGG	0.637												
NMRAL1	57407	broad.mit.edu	37	16	4516334	4516334	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:4516334T>C	uc002cwm.2	-	4	505	c.349A>G	c.(349-351)ATC>GTC	p.I117V	NMRAL1_uc002cwn.2_Missense_Mutation_p.I117V|NMRAL1_uc002cwo.2_Missense_Mutation_p.I117V|NMRAL1_uc002cwp.2_Missense_Mutation_p.I153V	NM_020677	NP_065728	Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	117						nucleus|perinuclear region of cytoplasm	binding			kidney(1)	1						AGCTTCTTGATGTTCTCCAGG	0.607												
NAGPA	51172	broad.mit.edu	37	16	5075682	5075682	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:5075682C>T	uc002cyg.2	-	10	1366	c.1345G>A	c.(1345-1347)GCC>ACC	p.A449T	NAGPA_uc010buc.2_Missense_Mutation_p.A146T|NAGPA_uc002cyf.2_Missense_Mutation_p.A167T|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Intron	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester	449	Helical; (Potential).				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity				0					N-Acetyl-D-glucosamine(DB00141)	GCTAGCCAGGCGGTCCTGCAG	0.642												
A2BP1	54715	broad.mit.edu	37	16	7568298	7568298	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:7568298C>T	uc002cys.2	+	5	1165	c.177C>T	c.(175-177)CCC>CCT	p.P59P	A2BP1_uc010buf.1_Silent_p.P59P|A2BP1_uc002cyr.1_Silent_p.P59P|A2BP1_uc002cyt.2_Silent_p.P59P|A2BP1_uc010uxz.1_Silent_p.P102P|A2BP1_uc010uya.1_Silent_p.P95P|A2BP1_uc002cyv.1_Silent_p.P59P|A2BP1_uc010uyb.1_Silent_p.P59P|A2BP1_uc002cyw.2_Silent_p.P79P|A2BP1_uc002cyy.2_Silent_p.P79P|A2BP1_uc002cyx.2_Silent_p.P79P|A2BP1_uc010uyc.1_Silent_p.P79P	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	59					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		CCACGGTTCCCGAGCACACAT	0.657												
TEKT5	146279	broad.mit.edu	37	16	10729710	10729710	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:10729710C>T	uc002czz.1	-	6	1224	c.1152G>A	c.(1150-1152)AAG>AAA	p.K384K		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	384	Potential.				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2						GCGGGCCCTCCTTGGCCATGA	0.622												
ZC3H7A	29066	broad.mit.edu	37	16	11859392	11859392	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:11859392A>G	uc002dbk.2	-	13	1870	c.1672T>C	c.(1672-1674)TTC>CTC	p.F558L	ZC3H7A_uc002dbj.2_RNA|ZC3H7A_uc002dbl.2_Missense_Mutation_p.F558L|ZC3H7A_uc002dbm.1_Missense_Mutation_p.F468L	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	558						nucleus	nucleic acid binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						AGAAGTTTGAACACAGTAAGG	0.438												
NPIP	9284	broad.mit.edu	37	16	15026588	15026588	+	RNA	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:15026588C>T	uc002dcx.3	+	7		c.1236C>T						Q9UND3	NPIP_HUMAN	Homo sapiens neuroblastoma cDNA, clone:Nbla00537, full insert sequence.						mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore					0						GAGTGTGGCACGACAACAAAG	0.642												
PDXDC1	23042	broad.mit.edu	37	16	15091639	15091639	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:15091639A>G	uc002dda.3	+	2	275	c.51A>G	c.(49-51)GGA>GGG	p.G17G	PDXDC1_uc010uzl.1_Silent_p.G2G|PDXDC1_uc010uzm.1_Silent_p.G2G|PDXDC1_uc010bvc.1_5'UTR|PDXDC1_uc002dcz.2_Silent_p.G17G|PDXDC1_uc002ddb.3_Silent_p.G17G|PDXDC1_uc010uzn.1_Silent_p.G17G|PDXDC1_uc002ddc.2_Silent_p.G17G	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain	17					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	CTGAAATGGGAAAAAACTTGA	0.433												
NDE1	54820	broad.mit.edu	37	16	15785104	15785104	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:15785104G>A	uc002ddt.1	+	5	670	c.627G>A	c.(625-627)ACG>ACA	p.T209T	NDE1_uc010uzy.1_Silent_p.T209T|NDE1_uc002dds.2_Silent_p.T209T|NDE1_uc002ddu.1_Silent_p.T146T	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	nuclear distribution gene E homolog 1	209	Interaction with CENPF (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			ovary(1)	1						TGCAGGCCACGGGCTCCGTGC	0.612												
MYH11	4629	broad.mit.edu	37	16	15797970	15797970	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:15797970C>T	uc002ddy.2	-	41	5904	c.5797G>A	c.(5797-5799)GAG>AAG	p.E1933K	MYH11_uc002ddv.2_3'UTR|MYH11_uc002ddw.2_3'UTR|MYH11_uc002ddx.2_Missense_Mutation_p.E1940K|MYH11_uc010bvg.2_3'UTR|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1933	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						AAAGAGGTCTCGTTTCCTCGC	0.393			T	CBFB	AML							
MYH11	4629	broad.mit.edu	37	16	15818179	15818179	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:15818179C>T	uc002ddy.2	-	31	4311	c.4204G>A	c.(4204-4206)GAG>AAG	p.E1402K	MYH11_uc002ddv.2_Missense_Mutation_p.E1409K|MYH11_uc002ddw.2_Missense_Mutation_p.E1402K|MYH11_uc002ddx.2_Missense_Mutation_p.E1409K|MYH11_uc010bvg.2_Missense_Mutation_p.E1234K|NDE1_uc010uzy.1_3'UTR|NDE1_uc002dds.2_3'UTR|MYH11_uc010bvh.2_Missense_Mutation_p.E108K|NDE1_uc002ddz.1_RNA	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1402	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						GTGAGGTTCTCGATCTCCTTC	0.542			T	CBFB	AML							
COQ7	10229	broad.mit.edu	37	16	19087090	19087090	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:19087090G>A	uc002dfr.2	+	4	475	c.415G>A	c.(415-417)GTG>ATG	p.V139M	COQ7_uc002dfs.2_Missense_Mutation_p.V125M	NM_016138	NP_057222	Q99807	COQ7_HUMAN	COQ7 protein	139	2.|2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			skin(1)	1						GGCCTGCACCGTGGCGGTGGA	0.517												
ACSM2B	348158	broad.mit.edu	37	16	20548678	20548678	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:20548678A>G	uc002dhj.3	-	15	1846	c.1636T>C	c.(1636-1638)TTT>CTT	p.F546L	ACSM2B_uc002dhk.3_Missense_Mutation_p.F546L	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	546					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						TTCAAGACAAACTCTATCTGT	0.483												
DNAH3	55567	broad.mit.edu	37	16	21145631	21145631	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:21145631A>G	uc010vbe.1	-	7	1031	c.1031T>C	c.(1030-1032)CTG>CCG	p.L344P	DNAH3_uc002die.2_Missense_Mutation_p.L315P	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	344	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CACCGTGTGCAGATGCTCCTC	0.522												
ZP2	7783	broad.mit.edu	37	16	21220960	21220960	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:21220960T>C	uc002dii.2	-	4	322	c.322A>G	c.(322-324)AGG>GGG	p.R108G	ZP2_uc010bwn.1_Missense_Mutation_p.R147G|ZP2_uc010bwo.2_Missense_Mutation_p.R147G	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	108	Extracellular (Potential).				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		ACCACTCTCCTGGTACAGTTA	0.478												
OTOA	146183	broad.mit.edu	37	16	21690264	21690264	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:21690264G>A	uc002djh.2	+	2	121	c.120G>A	c.(118-120)GCG>GCA	p.A40A	uc002diq.3_Intron	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	40					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		AAAACATGGCGGTGAGTATTC	0.348												
HS3ST2	9956	broad.mit.edu	37	16	22926718	22926718	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:22926718C>T	uc002dli.2	+	2	1011	c.939C>T	c.(937-939)TGC>TGT	p.C313C	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	313	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		GATTCCCTTGCTTGAAAAAAA	0.498												
CACNG3	10368	broad.mit.edu	37	16	24372935	24372935	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:24372935G>A	uc002dmf.2	+	4	1899	c.699G>A	c.(697-699)AGG>AGA	p.R233R		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	233					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)		GATTCCGGAGGCGGTCAAGTT	0.537												
AQP8	343	broad.mit.edu	37	16	25228661	25228661	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:25228661G>A	uc002doc.2	+	2	237	c.155G>A	c.(154-156)GGG>GAG	p.G52E		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	52	Helical; (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)		ATCTTCATCGGGTGCCTGTCG	0.632												
JMJD5	79831	broad.mit.edu	37	16	27221729	27221729	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:27221729C>T	uc002doh.2	+	2	467	c.285C>T	c.(283-285)TAC>TAT	p.Y95Y	JMJD5_uc010bxv.2_Intron|JMJD5_uc010vcn.1_Silent_p.Y133Y|JMJD5_uc010bxw.2_Silent_p.Y95Y	NM_024773	NP_079049	Q8N371	KDM8_HUMAN	jumonji domain containing 5 isoform 2	95					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(2)|upper_aerodigestive_tract(1)	3						GCCGGGTCTACGCCATCGGCT	0.622												
GTF3C1	2975	broad.mit.edu	37	16	27519890	27519890	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:27519890G>A	uc002dov.1	-	8	1253	c.1213C>T	c.(1213-1215)CGA>TGA	p.R405*	GTF3C1_uc002dou.2_Nonsense_Mutation_p.R405*	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	405						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TGAAGAAGTCGGCACAGCATT	0.453												
SBK1	388228	broad.mit.edu	37	16	28331528	28331528	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:28331528C>T	uc002dpd.2	+	4	1350	c.561C>T	c.(559-561)TGC>TGT	p.C187C		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	SH3-binding kinase 1	187	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2						ACCGCGAGTGCCGCCGCGTAA	0.692												
SBK1	388228	broad.mit.edu	37	16	28331667	28331667	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:28331667G>A	uc002dpd.2	+	4	1489	c.700G>A	c.(700-702)GTG>ATG	p.V234M		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	SH3-binding kinase 1	234	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2						GGACACGGGCGTGGACGTGTG	0.716												
APOB48R	55911	broad.mit.edu	37	16	28508861	28508861	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:28508861G>A	uc002dqb.1	+	3	2482	c.2472G>A	c.(2470-2472)GAG>GAA	p.E824E	uc010vct.1_Intron|APOB48R_uc010byg.1_Silent_p.E362E	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	824	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0						AGTCCAGGGAGGGAGGACCTT	0.637												
SULT1A1	6817	broad.mit.edu	37	16	28618377	28618377	+	Missense_Mutation	SNP	C	C	T	rs138013613		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:28618377C>T	uc002dqi.2	-	4	867	c.394G>A	c.(394-396)GCA>ACA	p.A132T	uc010vct.1_Intron|SULT1A1_uc002dqj.2_Missense_Mutation_p.A132T|SULT1A1_uc002dqk.2_Missense_Mutation_p.A132T|SULT1A1_uc002dql.2_Missense_Mutation_p.A132T|SULT1A1_uc002dqm.2_Missense_Mutation_p.A54T|SULT1A1_uc002dqn.2_Missense_Mutation_p.A223T|SULT1A1_uc002dqo.2_Missense_Mutation_p.A132T|SULT1A1_uc002dqp.2_Missense_Mutation_p.A132T	NM_177534	NP_803878	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A,	132	PAPS.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						ACATCCTTTGCGTTGCGGGCA	0.567												
SULT1A1	6817	broad.mit.edu	37	16	28619676	28619676	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:28619676C>T	uc002dqi.2	-	3	781	c.308G>A	c.(307-309)CGA>CAA	p.R103Q	uc010vct.1_Intron|SULT1A1_uc002dqj.2_Missense_Mutation_p.R103Q|SULT1A1_uc002dqk.2_Missense_Mutation_p.R103Q|SULT1A1_uc002dql.2_Missense_Mutation_p.R103Q|SULT1A1_uc002dqm.2_Intron|SULT1A1_uc002dqn.2_Missense_Mutation_p.R194Q|SULT1A1_uc002dqo.2_Missense_Mutation_p.R103Q|SULT1A1_uc002dqp.2_Missense_Mutation_p.R103Q	NM_177534	NP_803878	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A,	103					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						CTTCAGGAGTCGTGGGGCCGG	0.507												
ATP2A1	487	broad.mit.edu	37	16	28912049	28912049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:28912049C>T	uc002dro.1	+	15	2096	c.1912C>T	c.(1912-1914)CGA>TGA	p.R638*	uc010vct.1_Intron|ATP2A1_uc002drn.1_Nonsense_Mutation_p.R638*|ATP2A1_uc002drp.1_Nonsense_Mutation_p.R513*	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	638	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CATCTGCCGGCGAATTGGCAT	0.642												
LAT	27040	broad.mit.edu	37	16	28997880	28997880	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:28997880C>T	uc002dsd.2	+	6	682	c.330C>T	c.(328-330)TAC>TAT	p.Y110Y	uc010vct.1_Intron|LAT_uc010vdj.1_Silent_p.Y146Y|LAT_uc002dsb.2_Silent_p.Y110Y|LAT_uc002dsc.2_Silent_p.Y109Y|LAT_uc010vdk.1_Intron|LAT_uc010vdl.1_Silent_p.Y109Y	NM_014387	NP_055202	O43561	LAT_HUMAN	linker for activation of T cells isoform a	110	Cytoplasmic (Potential).				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity				0		Hepatocellular(780;0.244)				TGGCGAGCTACGAGAACGAGG	0.627												
TAOK2	9344	broad.mit.edu	37	16	29997696	29997696	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:29997696G>A	uc002dva.1	+	16	2886	c.2103G>A	c.(2101-2103)ACG>ACA	p.T701T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Silent_p.T701T|TAOK2_uc002dvc.1_Silent_p.T701T|TAOK2_uc010bzm.1_Silent_p.T708T|TAOK2_uc002dvd.1_Silent_p.T528T	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	701	Potential.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						TGCAGCGCACGCGGGCTGAGC	0.667												
CORO1A	11151	broad.mit.edu	37	16	30198388	30198388	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:30198388C>T	uc002dww.2	+	5	602	c.480C>T	c.(478-480)GAC>GAT	p.D160D	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010vej.1_3'UTR|CORO1A_uc010bzq.2_Silent_p.D160D|CORO1A_uc010bzr.2_Silent_p.D160D|CORO1A_uc002dwx.2_Silent_p.D54D|CORO1A_uc002dwy.1_Silent_p.D4D|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	160	WD 3.				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0						TGGTGTGGGACGTGGGCACTG	0.617												
SEPT1	1731	broad.mit.edu	37	16	30392723	30392723	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:30392723C>T	uc002dxy.2	-	6	564	c.377G>A	c.(376-378)CGG>CAG	p.R126Q	SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_5'UTR|SEPT1_uc010veq.1_Missense_Mutation_p.R173Q	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	septin 1	126					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			ovary(1)	1			Colorectal(24;0.193)			GATGTTCTTCCGGTTCAGGCC	0.592												
ZNF768	79724	broad.mit.edu	37	16	30536054	30536054	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:30536054G>T	uc002dyk.3	-	2	1583	c.1407C>A	c.(1405-1407)TCC>TCA	p.S469S	ZNF768_uc010vex.1_Silent_p.S438S|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Silent_p.S438S	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	469	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						TGAGAGTGGAGGAGCGATTGA	0.687												
ZNF764	92595	broad.mit.edu	37	16	30569372	30569372	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:30569372C>T	uc002dyq.2	-	1	213	c.132G>A	c.(130-132)CGG>CGA	p.R44R	ZNF764_uc002dyr.1_Silent_p.R44R	NM_033410	NP_219363	Q96H86	ZN764_HUMAN	zinc finger protein 764	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCTGCGCTGGCCGCAAGCAGC	0.721												
SRCAP	10847	broad.mit.edu	37	16	30747684	30747684	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:30747684C>A	uc002dze.1	+	32	7278	c.6893C>A	c.(6892-6894)GCT>GAT	p.A2298D	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.A2093D	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2298	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			ATGTCCCGGGCTGAGCAGGAA	0.557												
STX1B	112755	broad.mit.edu	37	16	31012433	31012433	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:31012433C>T	uc010cad.2	-	3	299	c.187G>A	c.(187-189)GCA>ACA	p.A63T	STX1B_uc010vfd.1_Missense_Mutation_p.A63T	NM_052874	NP_443106	P61266	STX1B_HUMAN	syntaxin 1B	63	Potential.|Cytoplasmic (Potential).				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity				0						GGGTTGGGTGCGGCCAGGATG	0.602												
BCKDK	10295	broad.mit.edu	37	16	31122516	31122516	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:31122516C>T	uc002eaw.3	+	9	1137	c.821C>T	c.(820-822)CCG>CTG	p.P274L	BCKDK_uc002eav.3_Missense_Mutation_p.P274L|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_Missense_Mutation_p.P274L	NM_005881	NP_005872	O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	274	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			stomach(1)|breast(1)	2						TACATCCTGCCGGAGCTGCTC	0.602												
SLC5A2	6524	broad.mit.edu	37	16	31499965	31499965	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:31499965G>A	uc002ecf.3	+	10	1171	c.1152G>A	c.(1150-1152)GCG>GCA	p.A384A	SLC5A2_uc010car.2_Intron|C16orf58_uc002ecg.2_RNA	NM_003041	NP_003032	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose	384	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			ovary(1)	1						TCATGCTGGCGGTCATGCTGG	0.706												
SHCBP1	79801	broad.mit.edu	37	16	46629544	46629544	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:46629544G>A	uc002eec.3	-	10	1424	c.1384C>T	c.(1384-1386)CTG>TTG	p.L462L		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	462	PbH1 2.									ovary(1)|breast(1)	2		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TCACACTGCAGCACACAGTTT	0.453												
ABCC12	94160	broad.mit.edu	37	16	48149419	48149419	+	Silent	SNP	G	G	A	rs141837830		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:48149419G>A	uc002efc.1	-	13	2242	c.1896C>T	c.(1894-1896)GCC>GCT	p.A632A	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	632	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				GGGCGTCCACGGCCGACAGGG	0.632												
ABCC11	85320	broad.mit.edu	37	16	48244967	48244967	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:48244967G>A	uc002eff.1	-	10	1850	c.1500C>T	c.(1498-1500)AAC>AAT	p.N500N	ABCC11_uc002efg.1_Silent_p.N500N|ABCC11_uc002efh.1_Silent_p.N500N|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	500	Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AAGCATGCCCGTTCCTCTCCA	0.592									Cerumen_Type			
ABCC11	85320	broad.mit.edu	37	16	48258336	48258336	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:48258336G>A	uc002eff.1	-	4	750	c.400C>T	c.(400-402)CAC>TAC	p.H134Y	ABCC11_uc002efg.1_Missense_Mutation_p.H134Y|ABCC11_uc002efh.1_Missense_Mutation_p.H134Y|ABCC11_uc010vgl.1_Missense_Mutation_p.H134Y	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	134	Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CAAAGGCGGTGAAGCCTTGAA	0.448									Cerumen_Type			
LONP2	83752	broad.mit.edu	37	16	48337150	48337150	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:48337150G>A	uc002efi.1	+	11	1818	c.1729G>A	c.(1729-1731)GTG>ATG	p.V577M	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.V533M	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	577					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						AGCTGTGGCCGTGAAGGTGGC	0.483												
BRD7	29117	broad.mit.edu	37	16	50362621	50362621	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:50362621G>A	uc002egf.1	-	10	1113	c.1046C>T	c.(1045-1047)ACG>ATG	p.T349M	BRD7_uc002ege.1_Missense_Mutation_p.T349M	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	bromodomain containing 7	349					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding				0		all_cancers(37;0.0127)				TCCCAACGTCGTTGTTCCATC	0.373												
CYLD	1540	broad.mit.edu	37	16	50826532	50826532	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:50826532A>C	uc002egp.1	+	16	2681	c.2266A>C	c.(2266-2268)ATG>CTG	p.M756L	CYLD_uc010cbs.1_Missense_Mutation_p.M753L|CYLD_uc002egq.1_Missense_Mutation_p.M753L|CYLD_uc002egr.1_Missense_Mutation_p.M753L	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	756					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				GATTATTCAGATGCCTCGATT	0.274			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial			
CYLD	1540	broad.mit.edu	37	16	50828188	50828188	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:50828188C>T	uc002egp.1	+	18	2950	c.2535C>T	c.(2533-2535)CCC>CCT	p.P845P	CYLD_uc010cbs.1_Silent_p.P842P|CYLD_uc002egq.1_Silent_p.P842P|CYLD_uc002egr.1_Silent_p.P842P	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	845					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				AAGACTTACCCGACTGGGACT	0.423			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial			
COQ9	57017	broad.mit.edu	37	16	57494015	57494015	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:57494015C>T	uc002elq.2	+	8	936	c.920C>T	c.(919-921)ACG>ATG	p.T307M	COQ9_uc002elr.2_Missense_Mutation_p.T272M|COQ9_uc002els.2_Missense_Mutation_p.T100M|POLR2C_uc010vhq.1_5'Flank|POLR2C_uc002elt.1_5'Flank	NM_020312	NP_064708	O75208	COQ9_HUMAN	coenzyme Q9 homolog precursor	307					ubiquinone biosynthetic process	mitochondrion				breast(1)	1						GCAGCAGTGACGGTGAGTACT	0.527												
CCDC135	84229	broad.mit.edu	37	16	57756718	57756718	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:57756718T>G	uc002emi.2	+	10	1462	c.1373T>G	c.(1372-1374)CTT>CGT	p.L458R	CCDC135_uc002emj.2_Missense_Mutation_p.L458R|CCDC135_uc002emk.2_Missense_Mutation_p.L393R	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	458						cytoplasm				central_nervous_system(1)	1						AGCAATGGCCTTGTGAGCCGC	0.592												
KATNB1	10300	broad.mit.edu	37	16	57778372	57778372	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:57778372G>A	uc002eml.1	+	4	612	c.238G>A	c.(238-240)GCC>ACC	p.A80T		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	80	WD 2.|Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				GCTCATCGTGGCCGGCTCTCA	0.637												
CNOT1	23019	broad.mit.edu	37	16	58579291	58579291	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:58579291C>T	uc002env.2	-	30	4404	c.4111G>A	c.(4111-4113)GCA>ACA	p.A1371T	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.A1366T|CNOT1_uc002enx.2_Missense_Mutation_p.A1371T|CNOT1_uc010vik.1_Missense_Mutation_p.A328T	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1371					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATGTGTGGTGCCAAGCCCGCA	0.463												
CDH5	1003	broad.mit.edu	37	16	66436947	66436947	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:66436947A>G	uc002eom.3	+	12	2386	c.2230A>G	c.(2230-2232)AGC>GGC	p.S744G		NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	744	Cytoplasmic (Potential).|Ser-rich.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CGAGTCCCTCAGCTCCCTGGG	0.622												
CES8	283848	broad.mit.edu	37	16	67035282	67035282	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67035282A>G	uc002eqv.2	+	5	651	c.608A>G	c.(607-609)GAG>GGG	p.E203G	CES8_uc010vix.1_Missense_Mutation_p.E203G|CES8_uc002eqw.2_Missense_Mutation_p.E203G|CES8_uc002eqy.2_Missense_Mutation_p.E105G|CES8_uc002eqx.2_Missense_Mutation_p.E9G|CES8_uc010viy.1_Missense_Mutation_p.E109G|CES8_uc010viz.1_Missense_Mutation_p.E105G	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN	carboxylesterase 8 (putative)	203						extracellular region	carboxylesterase activity				0						TGGGTGCAGGAGAACATCGCA	0.662												
EXOC3L	283849	broad.mit.edu	37	16	67219121	67219121	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67219121C>T	uc002erx.1	-	11	1908	c.1667G>A	c.(1666-1668)AGC>AAC	p.S556N	KIAA0895L_uc002ert.2_5'Flank|KIAA0895L_uc002eru.2_5'Flank|EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Missense_Mutation_p.S207N|EXOC3L_uc002ery.1_Missense_Mutation_p.S458N|EXOC3L_uc010vje.1_Missense_Mutation_p.S453N	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	556					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		GAGCTCAGGGCTCGACAGCCA	0.637												
EXOC3L	283849	broad.mit.edu	37	16	67223035	67223035	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67223035G>A	uc002erx.1	-	3	336	c.95C>T	c.(94-96)GCA>GTA	p.A32V	EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_5'UTR|EXOC3L_uc002ery.1_Missense_Mutation_p.A37V|EXOC3L_uc010vje.1_Missense_Mutation_p.A32V	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	32	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		CTTGAGCGCTGCACCCCGGGC	0.682												
FHOD1	29109	broad.mit.edu	37	16	67270900	67270900	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67270900C>T	uc002esl.2	-	10	1223	c.1111G>A	c.(1111-1113)GGG>AGG	p.G371R	FHOD1_uc010ced.2_Missense_Mutation_p.G178R|FHOD1_uc010vjh.1_Silent_p.A33A	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	371	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GGGCAGCCCCCGCCTTCCAGA	0.622												
KCTD19	146212	broad.mit.edu	37	16	67333364	67333364	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67333364C>A	uc002esu.2	-	6	939	c.888G>T	c.(886-888)AAG>AAT	p.K296N	KCTD19_uc002est.2_Missense_Mutation_p.K68N|KCTD19_uc010vjj.1_Missense_Mutation_p.K39N	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	296						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AGTCCGGGTACTTGACCAGCA	0.627												
HSD11B2	3291	broad.mit.edu	37	16	67470622	67470622	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67470622C>T	uc002etd.2	+	5	1050	c.934C>T	c.(934-936)CGC>TGC	p.R312C		NM_000196	NP_000187	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	312					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	GCACTCGCTACGCCTGGCCAT	0.642												
ATP6V0D1	9114	broad.mit.edu	37	16	67472920	67472920	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67472920C>T	uc002ete.1	-	6	870	c.770G>A	c.(769-771)CGG>CAG	p.R257Q	ATP6V0D1_uc010vjo.1_Missense_Mutation_p.R298Q|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.R180Q	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	257					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		GTCGTCAGCCCGAGCCAGCTG	0.602												
ACD	65057	broad.mit.edu	37	16	67694125	67694125	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67694125C>A	uc002etq.3	-	1	594	c.257G>T	c.(256-258)GGG>GTG	p.G86V	ACD_uc002etp.3_Missense_Mutation_p.G86V|ACD_uc002etr.3_Missense_Mutation_p.G86V|ACD_uc010vjt.1_Missense_Mutation_p.G76V|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	86					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		ACCTGCCATCCCCACGGCTAC	0.697												
C16orf48	84080	broad.mit.edu	37	16	67700086	67700086	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67700086G>A	uc002etw.1	-	2	451	c.168C>T	c.(166-168)GGC>GGT	p.G56G	C16orf48_uc002etv.1_5'Flank|C16orf48_uc010cem.1_Silent_p.G56G|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.2_5'Flank|C16orf86_uc002etz.2_5'Flank	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	hypothetical protein LOC84080	56						microtubule cytoskeleton	protein binding				0		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CGATGCAGGGGCCACGGGGAG	0.711												
GFOD2	81577	broad.mit.edu	37	16	67709523	67709523	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67709523C>A	uc002eub.2	-	3	988	c.693G>T	c.(691-693)GGG>GGT	p.G231G	GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Silent_p.G126G	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	231						proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TACACACACCCCCACCCATGA	0.582												
TSNAXIP1	55815	broad.mit.edu	37	16	67861838	67861838	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67861838G>T	uc002euj.2	+	16	2313	c.1919G>T	c.(1918-1920)CGG>CTG	p.R640L	TSNAXIP1_uc002euf.3_3'UTR|TSNAXIP1_uc010vka.1_Missense_Mutation_p.R694L|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.R625L|TSNAXIP1_uc002eug.3_Missense_Mutation_p.R348L|TSNAXIP1_uc002euh.3_Missense_Mutation_p.R348L|TSNAXIP1_uc002eui.3_Missense_Mutation_p.R348L|TSNAXIP1_uc002euk.2_Missense_Mutation_p.R373L	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	640					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GCCCTGGAGCGGCTTCAGGTG	0.592												
PSKH1	5681	broad.mit.edu	37	16	67943431	67943431	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67943431C>T	uc002euv.2	+	2	949	c.779C>T	c.(778-780)ACG>ATG	p.T260M	PSKH1_uc010cet.2_Missense_Mutation_p.T260M	NM_006742	NP_006733	P11801	KPSH1_HUMAN	protein serine kinase H1	260	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		ACCTGTGGCACGCCTGAGTAC	0.572												
ESRP2	80004	broad.mit.edu	37	16	68265115	68265115	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:68265115G>A	uc010cfa.1	-	12	1895	c.1707C>T	c.(1705-1707)CGC>CGT	p.R569R	ESRP2_uc002evp.1_Intron|ESRP2_uc002evq.1_Silent_p.R559R	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	569					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1						ACATGCCACTGCGGCCCAAGG	0.627												
SMPD3	55512	broad.mit.edu	37	16	68405948	68405948	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:68405948C>T	uc002ewa.2	-	3	559	c.137G>A	c.(136-138)CGC>CAC	p.R46H	SMPD3_uc010cfe.2_Missense_Mutation_p.R46H|SMPD3_uc010vlh.1_Missense_Mutation_p.R46H	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	46	Cytoplasmic (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TGCCCGCTGGCGCTTCTCGTA	0.642												
HAS3	3038	broad.mit.edu	37	16	69143688	69143688	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:69143688C>A	uc010cfh.2	+	2	614	c.390C>A	c.(388-390)GCC>GCA	p.A130A	HAS3_uc002ewk.2_Silent_p.A130A|HAS3_uc010vlk.1_Silent_p.A130A|HAS3_uc002ewl.2_Silent_p.A130A	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	130	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		AGGAGGACGCCTACATGCTGG	0.637												
CIRH1A	84916	broad.mit.edu	37	16	69171777	69171777	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:69171777A>G	uc002ews.3	+	4	521	c.425A>G	c.(424-426)GAT>GGT	p.D142G	CIRH1A_uc002ewr.2_Missense_Mutation_p.D142G|CIRH1A_uc002ewt.3_Missense_Mutation_p.D59G|CIRH1A_uc010cfi.2_Missense_Mutation_p.D59G	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	cirhin	142						nucleolus	protein binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.125)		AGAAATTTTGATCGGCAGAAA	0.378												
COG8	84342	broad.mit.edu	37	16	69373160	69373160	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:69373160C>T	uc002ewy.2	-	1	367	c.296G>A	c.(295-297)CGC>CAC	p.R99H	COG8_uc002ewz.3_Missense_Mutation_p.R99H|NIP7_uc002exa.2_5'Flank|NIP7_uc002exb.2_5'Flank	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	99					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						GCGGTGGATGCGCTCGGTGCA	0.697												
NOB1	28987	broad.mit.edu	37	16	69788525	69788525	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:69788525C>A	uc002exs.2	-	2	184	c.168G>T	c.(166-168)AAG>AAT	p.K56N		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	nin one binding protein	56	PINc.					nucleus	metal ion binding|protein binding				0						GTAAGGGCTCCTTGAACCGCA	0.632												
WWP2	11060	broad.mit.edu	37	16	69905707	69905707	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:69905707G>T	uc002exu.1	+	8	665	c.576G>T	c.(574-576)CGG>CGT	p.R192R	WWP2_uc002ext.2_Silent_p.R192R|WWP2_uc002exv.1_Silent_p.R192R|WWP2_uc010vlm.1_Silent_p.R76R	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	192					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			lung(3)|ovary(1)|breast(1)|skin(1)	6						GAACCCCCAGGACGCACAGAC	0.537												
AARS	16	broad.mit.edu	37	16	70310972	70310972	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:70310972C>T	uc002eyn.1	-	3	340	c.230G>A	c.(229-231)CGG>CAG	p.R77Q		NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	77					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GCCCCCAGCCCGGATGCACTT	0.483												
FUK	197258	broad.mit.edu	37	16	70497538	70497538	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:70497538G>A	uc002eyy.2	+	3	153	c.95G>A	c.(94-96)CGG>CAG	p.R32Q	FUK_uc010vmb.1_Missense_Mutation_p.R32Q|FUK_uc010cft.2_Missense_Mutation_p.R32Q|FUK_uc002eyz.2_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	32						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				CTGGAAGTGCGGCAGAAGCGG	0.617												
COG4	25839	broad.mit.edu	37	16	70514920	70514920	+	Missense_Mutation	SNP	C	C	T	rs142971847		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:70514920C>T	uc002ezc.2	-	19	2374	c.2363G>A	c.(2362-2364)CGC>CAC	p.R788H	COG4_uc002eza.2_Missense_Mutation_p.R125H|COG4_uc002ezb.2_Missense_Mutation_p.R244H|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.R767H|COG4_uc002eze.2_Missense_Mutation_p.R482H	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	784	E domain; essential for proper cell surface glycosylation.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				CAGCTACAGGCGCAGCCTCTT	0.627												
DHX38	9785	broad.mit.edu	37	16	72143392	72143392	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:72143392G>A	uc002fcb.2	+	25	3815	c.3460G>A	c.(3460-3462)GCG>ACG	p.A1154T	DHX38_uc010vmp.1_Missense_Mutation_p.A466T	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1154					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)				CGTGAAACAGGCGGGCAAGTC	0.612												
DHX38	9785	broad.mit.edu	37	16	72146337	72146337	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:72146337C>T	uc002fcb.2	+	27	3980	c.3625C>T	c.(3625-3627)CGG>TGG	p.R1209W	DHX38_uc010vmp.1_Missense_Mutation_p.R521W	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1209					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)				CACTCCAGGCCGGAAAGAGCA	0.622												
ZFHX3	463	broad.mit.edu	37	16	72830944	72830944	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:72830944T>A	uc002fck.2	-	9	6310	c.5637A>T	c.(5635-5637)AAA>AAT	p.K1879N	ZFHX3_uc002fcl.2_Missense_Mutation_p.K965N	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1879					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TGATGACCAATTTGTTCTTCT	0.542												
ZFHX3	463	broad.mit.edu	37	16	72831385	72831385	+	Silent	SNP	T	T	C	rs76691369		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:72831385T>C	uc002fck.2	-	9	5869	c.5196A>G	c.(5194-5196)CAA>CAG	p.Q1732Q	ZFHX3_uc002fcl.2_Silent_p.Q818Q	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1732	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				gttgttgttgttgctgttgct	0.413												
ZFHX3	463	broad.mit.edu	37	16	72991553	72991553	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:72991553T>C	uc002fck.2	-	2	3165	c.2492A>G	c.(2491-2493)AAC>AGC	p.N831S	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	831					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TAACATCATGTTATGCATGTG	0.562												
MLKL	197259	broad.mit.edu	37	16	74729555	74729555	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:74729555C>T	uc002fdb.2	-	2	542	c.101G>A	c.(100-102)CGC>CAC	p.R34H	MLKL_uc002fdc.2_Missense_Mutation_p.R34H	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like isoform 1	34							ATP binding|protein binding|protein kinase activity			stomach(2)	2						GCCGAGGACGCGGTGGCCCAG	0.532												
LDHD	197257	broad.mit.edu	37	16	75146325	75146325	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:75146325C>T	uc002fdm.2	-	11	1500	c.1453G>A	c.(1453-1455)GTG>ATG	p.V485M	LDHD_uc002fdn.2_Missense_Mutation_p.V462M	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor	485							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0						ATGGTCTCCACGCCCACGGCG	0.652												
BCAR1	9564	broad.mit.edu	37	16	75276437	75276437	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:75276437C>T	uc002fdv.2	-	2	687	c.564G>A	c.(562-564)GGG>GGA	p.G188G	BCAR1_uc010cgu.2_Silent_p.G159G|BCAR1_uc010vna.1_Silent_p.G186G|BCAR1_uc010vnb.1_Silent_p.G234G|BCAR1_uc002fdw.2_Silent_p.G188G|BCAR1_uc010vnc.1_Intron|BCAR1_uc010vnd.1_Silent_p.G206G|BCAR1_uc002fdx.2_Silent_p.G206G	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	188	Substrate for kinases (By similarity).				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			central_nervous_system(5)|breast(2)|prostate(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGATGTCATGCCCCATCCCGG	0.652												
BCAR1	9564	broad.mit.edu	37	16	75276727	75276727	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:75276727G>T	uc002fdv.2	-	2	397	c.274C>A	c.(274-276)CCA>ACA	p.P92T	BCAR1_uc010cgu.2_Missense_Mutation_p.P63T|BCAR1_uc010vna.1_Missense_Mutation_p.P90T|BCAR1_uc010vnb.1_Missense_Mutation_p.P138T|BCAR1_uc002fdw.2_Missense_Mutation_p.P92T|BCAR1_uc010vnc.1_Intron|BCAR1_uc010vnd.1_Missense_Mutation_p.P110T|BCAR1_uc002fdx.2_Missense_Mutation_p.P110T	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	92					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			central_nervous_system(5)|breast(2)|prostate(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGAGGCGCTGGGGCATGGAGG	0.682												
CHST6	4166	broad.mit.edu	37	16	75513267	75513267	+	Missense_Mutation	SNP	C	C	T	rs2550908		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:75513267C>T	uc002fef.2	-	3	640	c.460G>A	c.(460-462)GCG>ACG	p.A154T	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.A154T	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	154	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GACTGCCGCGCGCACAGTGGC	0.682												
ADAMTS18	170692	broad.mit.edu	37	16	77389931	77389931	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:77389931C>T	uc002ffc.3	-	9	1785	c.1366G>A	c.(1366-1368)GCT>ACT	p.A456T	ADAMTS18_uc010chc.1_Missense_Mutation_p.A44T|ADAMTS18_uc002ffe.1_Missense_Mutation_p.A152T|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	456	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TTGCCTTCAGCCTTTCTGCAG	0.433												
CDYL2	124359	broad.mit.edu	37	16	80667009	80667009	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:80667009A>G	uc002ffs.2	-	3	846	c.741T>C	c.(739-741)TGT>TGC	p.C247C		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	247						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						CTCGAAACCGACAGTTGCTTT	0.522												
C16orf61	56942	broad.mit.edu	37	16	81009998	81009998	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:81009998C>T	uc002ffu.2	-	4	431	c.232G>A	c.(232-234)GAA>AAA	p.E78K	C16orf61_uc002ffv.2_RNA	NM_020188	NP_064573	Q9NRP2	CP061_HUMAN	hypothetical protein LOC56942	78											0						ATTTATTTTTCGGATTCCTCT	0.408												
PKD1L2	114780	broad.mit.edu	37	16	81161457	81161457	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:81161457G>A	uc002fgh.1	-	38	6259	c.6259C>T	c.(6259-6261)CGT>TGT	p.R2087C	PKD1L2_uc002fgf.1_Translation_Start_Site|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2087	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TACCCTTGACGTTGGTCCTGG	0.572												
PLCG2	5336	broad.mit.edu	37	16	81944244	81944244	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:81944244G>A	uc002fgt.2	+	18	2005	c.1853G>A	c.(1852-1854)CGC>CAC	p.R618H	PLCG2_uc010chg.1_Missense_Mutation_p.R618H	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	618	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						CAGCACTACCGCGAGACGCAC	0.627												
CDH13	1012	broad.mit.edu	37	16	83378590	83378590	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:83378590G>A	uc002fgx.2	+	6	880	c.760G>A	c.(760-762)GTC>ATC	p.V254I	CDH13_uc010vns.1_Missense_Mutation_p.V301I|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Missense_Mutation_p.V215I	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	254	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CATCGGCCACGTCATGGAAGG	0.512												
CDH13	1012	broad.mit.edu	37	16	83712050	83712050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:83712050C>T	uc002fgx.2	+	10	1642	c.1522C>T	c.(1522-1524)CAG>TAG	p.Q508*	CDH13_uc010vns.1_Nonsense_Mutation_p.Q555*|CDH13_uc010vnt.1_Nonsense_Mutation_p.Q254*|CDH13_uc010vnu.1_Nonsense_Mutation_p.Q469*	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	508	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CGACTCCCTGCAGCATCAAAC	0.602												
SLC38A8	146167	broad.mit.edu	37	16	84075680	84075680	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:84075680C>T	uc002fhg.1	-	1	83	c.83G>A	c.(82-84)GGC>GAC	p.G28D		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	28					amino acid transport|sodium ion transport	integral to membrane					0						GAAGACAGCGCCCATCGAGGA	0.647												
HSDL1	83693	broad.mit.edu	37	16	84163718	84163718	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:84163718G>A	uc002fhk.2	-	4	723	c.539C>T	c.(538-540)GCC>GTC	p.A180V	HSDL1_uc010vnv.1_Missense_Mutation_p.A125V	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1 isoform a	180						mitochondrion	oxidoreductase activity|protein binding				0						CAAACTAGCGGCGGCAATGTT	0.493												
ATP2C2	9914	broad.mit.edu	37	16	84459366	84459366	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:84459366G>A	uc002fhx.2	+	11	1034	c.945G>A	c.(943-945)TCG>TCA	p.S315S	ATP2C2_uc010chj.2_Silent_p.S315S|ATP2C2_uc002fhy.2_Silent_p.S332S|ATP2C2_uc002fhz.2_Silent_p.S164S	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	315	Cytoplasmic (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2						TTGGCTGGTCGCAAGGGAAAC	0.527												
KLHL36	79786	broad.mit.edu	37	16	84691224	84691224	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:84691224G>A	uc002fig.2	+	3	952	c.811G>A	c.(811-813)GTG>ATG	p.V271M	KLHL36_uc010chl.2_Missense_Mutation_p.V270M	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	271										skin(2)	2						CGAGGAGGCCGTGCGCTACCA	0.682												
IRF8	3394	broad.mit.edu	37	16	85948113	85948113	+	Silent	SNP	C	C	T	rs112843240		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:85948113C>T	uc002fjh.2	+	6	645	c.588C>T	c.(586-588)GAC>GAT	p.D196D	IRF8_uc010chp.2_Intron	NM_002163	NP_002154	Q02556	IRF8_HUMAN	interferon regulatory factor 8	196					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|ovary(1)	3		Prostate(104;0.0771)				CCACCTACGACGCGCACCATT	0.602												
BANP	54971	broad.mit.edu	37	16	88052119	88052119	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:88052119G>A	uc002fkr.2	+	7	938	c.714G>A	c.(712-714)CTG>CTA	p.L238L	BANP_uc002fkp.2_Silent_p.L208L|BANP_uc002fkq.2_Silent_p.L208L|BANP_uc010vow.1_Silent_p.L246L|BANP_uc002fks.3_Silent_p.L207L|BANP_uc002fko.1_Silent_p.L144L|BANP_uc010vov.1_Silent_p.L213L	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein isoform b	239	Interaction with CUX1 and HDAC1 (By similarity).|BEN.				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCGACATGCTGCACATCAGCA	0.622												
SNAI3	333929	broad.mit.edu	37	16	88747836	88747836	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:88747836G>T	uc002flj.2	-	2	431	c.363C>A	c.(361-363)CCC>CCA	p.P121P	MGC23284_uc002fli.3_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	snail homolog 3	121					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.048)		ACCACCGTGTGGGCAGCACCA	0.682												
CDH15	1013	broad.mit.edu	37	16	89260206	89260206	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:89260206G>A	uc002fmt.2	+	13	2113	c.2036G>A	c.(2035-2037)AGC>AAC	p.S679N		NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	679	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		ACAGCGCTGAGCCTGCCTCTG	0.711												
CENPBD1	92806	broad.mit.edu	37	16	90038104	90038104	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:90038104G>A	uc002fpr.2	-	1	839	c.227C>T	c.(226-228)GCC>GTC	p.A76V	AFG3L1_uc002fps.1_5'Flank|AFG3L1_uc002fpt.1_5'Flank|AFG3L1_uc002fpu.1_5'Flank|AFG3L1_uc002fpv.1_5'Flank|AFG3L1_uc002fpw.1_5'Flank|AFG3L1_uc002fpx.1_5'Flank	NM_145039	NP_659476	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	76					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						CAACCGAGAGGCTCTCAGAGG	0.502												
PRDM7	11105	broad.mit.edu	37	16	90128476	90128476	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:90128476C>T	uc010cje.2	-	7	755	c.735G>A	c.(733-735)GGG>GGA	p.G245G	PRDM7_uc002fqo.2_Silent_p.G39G|PRDM7_uc010cjf.2_Silent_p.G128G|PRDM7_uc010cjg.1_Silent_p.G39G|PRDM7_uc010cjh.1_RNA	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	PR domain containing 7 isoform 1	245						chromosome|nucleus	nucleic acid binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CAATTCTCAGCCCCGGGGGCA	0.592												
ABR	29	broad.mit.edu	37	17	970392	970392	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:970392C>T	uc002fsd.2	-	10	1217	c.1107G>A	c.(1105-1107)GTG>GTA	p.V369V	ABR_uc002fse.2_Silent_p.V323V|ABR_uc010vqg.1_Silent_p.V151V|ABR_uc002fsg.2_Silent_p.V332V|ABR_uc002fsh.1_Silent_p.V253V	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	369	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGAAGGGGTGCACCTGGGGGC	0.567												
YWHAE	7531	broad.mit.edu	37	17	1268159	1268159	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:1268159C>T	uc002fsj.2	-	2	410	c.258G>A	c.(256-258)CGG>CGA	p.R86R	YWHAE_uc002fsk.2_Silent_p.R64R|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_RNA	NM_006761	NP_006752	P62258	1433E_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	86					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			lung(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		TCACCATTTGCCGATATTCCC	0.343												
MYO1C	4641	broad.mit.edu	37	17	1395772	1395772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:1395772G>A	uc002fsp.2	-	1	230	c.10C>T	c.(10-12)CAA>TAA	p.Q4*	MYO1C_uc002fso.2_5'Flank	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	4					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGCTCCACTTGCAGCGCCATT	0.687												
MNT	4335	broad.mit.edu	37	17	2290445	2290445	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:2290445T>C	uc002fur.2	-	6	1751	c.1499A>G	c.(1498-1500)CAT>CGT	p.H500R		NM_020310	NP_064706	Q99583	MNT_HUMAN	MAX binding protein	500					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			skin(1)	1				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		GTGGGCCACATGGTTGAGGGT	0.692												
MNT	4335	broad.mit.edu	37	17	2290577	2290577	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:2290577T>C	uc002fur.2	-	6	1619	c.1367A>G	c.(1366-1368)AAC>AGC	p.N456S		NM_020310	NP_064706	Q99583	MNT_HUMAN	MAX binding protein	456					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			skin(1)	1				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CAGAACGTGGTTCACAGTCTG	0.687												
METT10D	79066	broad.mit.edu	37	17	2324151	2324151	+	Silent	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:2324151T>G	uc002fut.2	-	9	1084	c.936A>C	c.(934-936)ATA>ATC	p.I312I	METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Silent_p.I94I	NM_024086	NP_076991	Q86W50	MET16_HUMAN	methyltransferase 10 domain containing	312							methyltransferase activity				0						CCACGAATGTTATGGGTTTTC	0.448												
OR1D2	4991	broad.mit.edu	37	17	2995926	2995926	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:2995926C>T	uc010vrb.1	-	1	365	c.365G>A	c.(364-366)CGC>CAC	p.R122H		NM_002548	NP_002539	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D,	122	Cytoplasmic (Potential).				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GGCCACATAGCGGTCATATGC	0.537												
OR1G1	8390	broad.mit.edu	37	17	3030645	3030645	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:3030645G>A	uc002fvc.1	-	1	201	c.201C>T	c.(199-201)TCC>TCT	p.S67S		NM_003555	NP_003546	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CATCTGCAAGGGAGAGGTTGG	0.498												
SPATA22	84690	broad.mit.edu	37	17	3349889	3349889	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:3349889A>G	uc002fvm.2	-	7	916	c.679T>C	c.(679-681)TCA>CCA	p.S227P	SPATA22_uc010vrg.1_Missense_Mutation_p.S211P|SPATA22_uc010vrf.1_Missense_Mutation_p.S227P|SPATA22_uc002fvn.2_Missense_Mutation_p.S227P|SPATA22_uc002fvo.2_Missense_Mutation_p.S227P|SPATA22_uc002fvp.2_Missense_Mutation_p.S227P|SPATA22_uc010ckf.2_Missense_Mutation_p.S184P	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	227											0						TGATACAATGAGGTTTCCTTT	0.289												
GSG2	83903	broad.mit.edu	37	17	3628631	3628631	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:3628631A>G	uc002fwp.2	+	1	1435	c.1402A>G	c.(1402-1404)AGT>GGT	p.S468G	ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	haspin	468					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity				0						TGGGGAATGCAGTCAGAAGGG	0.458												
GSG2	83903	broad.mit.edu	37	17	3628867	3628867	+	Silent	SNP	C	C	T	rs146710070		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:3628867C>T	uc002fwp.2	+	1	1671	c.1638C>T	c.(1636-1638)TCC>TCT	p.S546S	ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	haspin	546	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity				0						GCCTCTTATCCGGTGAAGTGT	0.488												
ITGAE	3682	broad.mit.edu	37	17	3660327	3660327	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:3660327C>T	uc002fwo.3	-	10	1221	c.1122G>A	c.(1120-1122)GCG>GCA	p.A374A		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	374	VWFA.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCCCATCCAGCGCCATGTAGT	0.498												
ZZEF1	23140	broad.mit.edu	37	17	3937518	3937518	+	Silent	SNP	G	G	A	rs35511240	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:3937518G>A	uc002fxe.2	-	40	6439	c.6375C>T	c.(6373-6375)AAC>AAT	p.N2125N	ZZEF1_uc002fxh.2_Silent_p.N439N|ZZEF1_uc002fxi.2_Silent_p.N360N|ZZEF1_uc002fxj.1_Silent_p.N738N	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2125							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GGTGGCCTGCGTTTGAGATGA	0.527												
SPNS2	124976	broad.mit.edu	37	17	4436551	4436551	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:4436551G>A	uc002fxx.2	+	8	1316	c.1102G>A	c.(1102-1104)GCC>ACC	p.A368T		NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	spinster homolog 2	368	Helical; (Potential).				lipid transport|transmembrane transport	integral to membrane					0						CATCTTTGGGGCCATCACCTG	0.667												
SPNS2	124976	broad.mit.edu	37	17	4437134	4437134	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:4437134G>A	uc002fxx.2	+	9	1544	c.1330G>A	c.(1330-1332)GCA>ACA	p.A444T	SPNS2_uc002fxy.2_5'Flank	NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	spinster homolog 2	444					lipid transport|transmembrane transport	integral to membrane					0						GGCCATCACTGCAGACATCCT	0.627												
MINK1	50488	broad.mit.edu	37	17	4789868	4789868	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:4789868G>A	uc010vsl.1	+	10	1092	c.896G>A	c.(895-897)CGC>CAC	p.R299H	MINK1_uc010vsk.1_Missense_Mutation_p.R299H|MINK1_uc010vsm.1_Missense_Mutation_p.R299H|MINK1_uc010vsn.1_Missense_Mutation_p.R299H|MINK1_uc010vso.1_Missense_Mutation_p.R244H|MINK1_uc010vsp.1_5'UTR	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	299					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						CGGCAGGTCCGCATCCAGCTT	0.602												
ZNF232	7775	broad.mit.edu	37	17	5009276	5009276	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:5009276C>A	uc002gas.2	-	5	1851	c.1097G>T	c.(1096-1098)GGG>GTG	p.G366V	ZNF232_uc002gar.1_Missense_Mutation_p.G384V|ZNF232_uc002gat.2_Missense_Mutation_p.G393V	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	366	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						AAAGGCCTTCCCACACTCATT	0.438												
KIAA0753	9851	broad.mit.edu	37	17	6493207	6493207	+	Missense_Mutation	SNP	G	G	A	rs112740973		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:6493207G>A	uc002gde.3	-	18	3037	c.2678C>T	c.(2677-2679)CCG>CTG	p.P893L	KIAA0753_uc010vtd.1_Missense_Mutation_p.P349L|KIAA0753_uc010clo.2_Missense_Mutation_p.P594L|KIAA0753_uc010vte.1_Missense_Mutation_p.P594L	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	893						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		CTGCATACCCGGTGGGACAAA	0.527												
SLC2A4	6517	broad.mit.edu	37	17	7187346	7187346	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7187346C>A	uc002gfp.2	+	5	702	c.502C>A	c.(502-504)CTG>ATG	p.L168M	SLC2A4_uc002gfo.2_Missense_Mutation_p.L168M|SLC2A4_uc010cmd.2_RNA	NM_001042	NP_001033	P14672	GTR4_HUMAN	glucose transporter 4	168	Cytoplasmic (Potential).				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding				0						TCCCACTCACCTGCGGGGCGC	0.632												
NEURL4	84461	broad.mit.edu	37	17	7226439	7226439	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7226439A>G	uc002gga.1	-	15	2428	c.2421T>C	c.(2419-2421)GGT>GGC	p.G807G	NEURL4_uc002ggb.1_Silent_p.G807G|NEURL4_uc002ggc.1_Silent_p.G153G	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	807	NHR 4.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						TGATGGCTGTACCACTGGGGG	0.567												
NEURL4	84461	broad.mit.edu	37	17	7227487	7227487	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7227487C>T	uc002gga.1	-	11	2009	c.2002G>A	c.(2002-2004)GTC>ATC	p.V668I	NEURL4_uc002ggb.1_Missense_Mutation_p.V668I|NEURL4_uc002ggc.1_Missense_Mutation_p.V14I	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	668	NHR 3.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						ACAGCATAGACGCCCGGGGGC	0.677											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
AMAC1L3	643664	broad.mit.edu	37	17	7386029	7386029	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7386029G>A	uc010cmj.1	+	2	841	c.726G>A	c.(724-726)CAG>CAA	p.Q242Q	ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN	acyl-malonyl condensing enzyme 1-like 3	242						integral to membrane					0		Prostate(122;0.173)				TTGTGCTGCAGCCCCCCGTGT	0.602												
POLR2A	5430	broad.mit.edu	37	17	7399666	7399666	+	Splice_Site	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7399666G>A	uc002ghf.3	+	3	597	c.363_splice	c.e3+1	p.S121_splice	POLR2A_uc002ghe.2_Splice_Site_p.S121_splice	NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A						mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				TGTGGACTCTGTGAGTGGGGA	0.577												
SENP3	26168	broad.mit.edu	37	17	7468815	7468815	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7468815G>A	uc002ghm.2	+	5	1399	c.1126G>A	c.(1126-1128)GTG>ATG	p.V376M	EIF4A1_uc002gho.1_Translation_Start_Site|SENP3_uc002ghn.1_3'UTR	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific protease 3	376					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)				CAATGCCATGGTGAGGGGCTT	0.557												
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7577539G>A	uc002gim.2	-	7	936	c.742C>T	c.(742-744)CGG>TGG	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
WRAP53	55135	broad.mit.edu	37	17	7605096	7605096	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7605096G>A	uc010vuh.1	+	7	1099	c.944G>A	c.(943-945)CGA>CAA	p.R315Q	WRAP53_uc010vui.1_Missense_Mutation_p.R315Q|WRAP53_uc002gip.2_Missense_Mutation_p.R315Q|WRAP53_uc002gir.2_Missense_Mutation_p.R315Q|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Missense_Mutation_p.R282Q|WRAP53_uc010vuj.1_Missense_Mutation_p.R96Q	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN	WD repeat domain 79 isoform 2	315					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding				0						TGCGAGGTCCGAGCCACATTT	0.637												
DNAH2	146754	broad.mit.edu	37	17	7690337	7690337	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7690337G>A	uc002giu.1	+	41	6603	c.6589G>A	c.(6589-6591)GCG>ACG	p.A2197T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2197	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGAGCGCATCGCGATGCCCGA	0.632												
KDM6B	23135	broad.mit.edu	37	17	7749539	7749539	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7749539C>T	uc002giw.1	+	6	756	c.380C>T	c.(379-381)ACA>ATA	p.T127I	KDM6B_uc002gix.2_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	127					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						GAGGAGGCCACACGCTGCTAC	0.642												
CHD3	1107	broad.mit.edu	37	17	7802494	7802494	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7802494G>A	uc002gje.2	+	14	2467	c.2317G>A	c.(2317-2319)GTC>ATC	p.V773I	CHD3_uc002gjd.2_Missense_Mutation_p.V832I|CHD3_uc002gjf.2_Missense_Mutation_p.V773I	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	773	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				ACAAACCATCGTCTTCCTCTA	0.557												
TRAPPC1	58485	broad.mit.edu	37	17	7834329	7834329	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7834329C>T	uc002gjo.1	-	3	425	c.309G>A	c.(307-309)GCG>GCA	p.A103A	KCNAB3_uc002gjm.1_5'Flank|KCNAB3_uc010vul.1_5'Flank|CNTROB_uc002gjp.2_5'Flank|CNTROB_uc002gjq.2_5'Flank	NM_021210	NP_067033	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	103					ER to Golgi vesicle-mediated transport	endoplasmic reticulum					0		Prostate(122;0.173)				TGGCACTGACCGCACTGTAGA	0.547												
CNTROB	116840	broad.mit.edu	37	17	7847812	7847812	+	Silent	SNP	G	G	A	rs146493138	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7847812G>A	uc002gjq.2	+	13	2509	c.1590G>A	c.(1588-1590)GCG>GCA	p.A530A	CNTROB_uc002gjp.2_Silent_p.A530A|CNTROB_uc002gjr.2_Silent_p.A432A|CNTROB_uc010vum.1_3'UTR	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	530	Potential.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				GGGAGCAAGCGCGAGTGTGCG	0.572												
CNTROB	116840	broad.mit.edu	37	17	7850958	7850958	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7850958A>G	uc002gjq.2	+	15	2982	c.2063A>G	c.(2062-2064)GAT>GGT	p.D688G	CNTROB_uc002gjp.2_Missense_Mutation_p.D688G|CNTROB_uc002gjr.2_Missense_Mutation_p.D590G	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	688	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				CCTGAGGAAGATCCTGGACCT	0.567												
SLC25A35	399512	broad.mit.edu	37	17	8195898	8195898	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:8195898T>C	uc002gla.3	-	2	429	c.384A>G	c.(382-384)ACA>ACG	p.T128T	SLC25A35_uc002gku.1_Silent_p.T128T|SLC25A35_uc002gkt.2_Silent_p.T128T|SLC25A35_uc002gkz.1_RNA	NM_201520	NP_958928	Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	128	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane					0						CCTGCAGGTGTGTCTTCACCT	0.532												
MYH10	4628	broad.mit.edu	37	17	8445466	8445466	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:8445466C>T	uc002gll.2	-	13	1630	c.1534G>A	c.(1534-1536)GGG>AGG	p.G512R	MYH10_uc002glm.2_Missense_Mutation_p.G522R|MYH10_uc010cnx.2_Missense_Mutation_p.G521R	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	512	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						AGATCCAGCCCGAAATCGATG	0.488												
MYH10	4628	broad.mit.edu	37	17	8449960	8449960	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:8449960G>A	uc002gll.2	-	11	1246	c.1150C>T	c.(1150-1152)CTT>TTT	p.L384F	MYH10_uc002glm.2_Missense_Mutation_p.L394F|MYH10_uc010cnx.2_Missense_Mutation_p.L393F	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	384	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						ATCCCAAGAAGATGGCAGAGC	0.428												
STX8	9482	broad.mit.edu	37	17	9408353	9408353	+	Splice_Site	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:9408353A>G	uc002glx.2	-	5	598	c.448_splice	c.e5+1	p.E150_splice		NM_004853	NP_004844	Q9UNK0	STX8_HUMAN	syntaxin 8						transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)	1						GATATTTAGTACCTTGGATAA	0.363												
MYH2	4620	broad.mit.edu	37	17	10447416	10447416	+	Splice_Site	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:10447416C>T	uc010coi.2	-	6	661	c.533_splice	c.e6+1	p.T178_splice	uc002gml.1_Intron|MYH2_uc002gmp.3_Splice_Site_p.T178_splice|MYH2_uc010coj.2_Splice_Site_p.T178_splice	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						AATCTACTTACGTGATCAGGA	0.343												
MYH3	4621	broad.mit.edu	37	17	10549312	10549312	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:10549312C>T	uc002gmq.1	-	10	1013	c.936G>A	c.(934-936)CCG>CCA	p.P312P		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	312	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						GGCTAATGAACGGGTAGTCGT	0.507											OREG0024181	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DNAH9	1770	broad.mit.edu	37	17	11520831	11520831	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:11520831G>A	uc002gne.2	+	5	1076	c.1008G>A	c.(1006-1008)CGG>CGA	p.R336R		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	336	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCAGCTGCGGCCCCTGCTCC	0.592												
DNAH9	1770	broad.mit.edu	37	17	11784614	11784614	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:11784614C>T	uc002gne.2	+	55	10758	c.10690C>T	c.(10690-10692)CCT>TCT	p.P3564S	DNAH9_uc010coo.2_Missense_Mutation_p.P2858S|DNAH9_uc002gnf.2_5'Flank	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3564	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCACTACCAGCCTGAGCTGCA	0.527												
ELAC2	60528	broad.mit.edu	37	17	12896274	12896274	+	Missense_Mutation	SNP	C	C	T	rs119484086	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:12896274C>T	uc002gnz.3	-	24	2437	c.2342G>A	c.(2341-2343)CGC>CAC	p.R781H	ELAC2_uc002gnu.3_Missense_Mutation_p.R178H|ELAC2_uc002gnv.3_Missense_Mutation_p.R409H|ELAC2_uc002gnw.3_Missense_Mutation_p.R437H|ELAC2_uc002gnx.3_Missense_Mutation_p.R541H|ELAC2_uc010vvo.1_Missense_Mutation_p.R579H|ELAC2_uc010vvp.1_Missense_Mutation_p.R762H|ELAC2_uc010vvq.1_Missense_Mutation_p.R780H|ELAC2_uc010vvr.1_Missense_Mutation_p.R741H	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	elaC homolog 2 isoform 1	781			R -> H (in CaP; in one family with high frequency of CaP; does not affect the enzymatic activity).		tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding				0						CTTCTCCCTGCGCTCCTCCAT	0.637									Hereditary_Prostate_Cancer			
FAM18B2	201158	broad.mit.edu	37	17	15457117	15457117	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:15457117A>G	uc002goq.2	-	3	305	c.122T>C	c.(121-123)TTA>TCA	p.L41S	CDRT4_uc010vvw.1_Intron|FAM18B2_uc010vvx.1_Missense_Mutation_p.L41S|FAM18B2_uc010cor.2_Missense_Mutation_p.L41S	NM_145301	NP_660344	Q96ET8	F18B2_HUMAN	hypothetical protein LOC201158 isoform 1	41						integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0872)|BRCA - Breast invasive adenocarcinoma(8;0.0581)|READ - Rectum adenocarcinoma(1115;0.0967)		TCGAAAGAATAAGTGGAAAAA	0.368												
CDRT1	374286	broad.mit.edu	37	17	15522783	15522783	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:15522783C>T	uc002gov.3	-	1	236	c.44G>A	c.(43-45)CGT>CAT	p.R15H	TRIM16_uc002gor.1_Intron	NM_006382	NP_006373	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	15											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		CTTCTCACAACGAAAATAGGG	0.498												
NCOR1	9611	broad.mit.edu	37	17	16024450	16024450	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:16024450T>C	uc002gpo.2	-	16	2008	c.1768A>G	c.(1768-1770)ACA>GCA	p.T590A	NCOR1_uc002gpn.2_Missense_Mutation_p.T590A|NCOR1_uc002gpp.1_Missense_Mutation_p.T481A|NCOR1_uc002gpr.2_Missense_Mutation_p.T481A	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	590					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCTTCGTTTGTCATGGACCTG	0.602												
ZNF624	57547	broad.mit.edu	37	17	16526942	16526942	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:16526942C>T	uc010cpi.1	-	6	1341	c.1258G>A	c.(1258-1260)GAT>AAT	p.D420N		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	420	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTCCCACAATCATCACATTTG	0.398												
PLD6	201164	broad.mit.edu	37	17	17109597	17109597	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:17109597C>A	uc002gqz.2	-	1	36	c.4G>T	c.(4-6)GGA>TGA	p.G2*	PLD6_uc010cpn.2_Intron	NM_178836	NP_849158	Q8N2A8	PLD6_HUMAN	phospholipase D6	2	Mitochondrial intermembrane (Potential).				DNA methylation involved in gamete generation|lipid catabolic process|meiosis|mitochondrial fusion|P granule organization|piRNA metabolic process|spermatid development	integral to membrane|mitochondrial outer membrane	cardiolipin hydrolase activity|protein homodimerization activity				0						CTCAACCGTCCCATGCCGCCG	0.726												
RAI1	10743	broad.mit.edu	37	17	17700540	17700540	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:17700540C>T	uc002grm.2	+	3	4747	c.4278C>T	c.(4276-4278)ACC>ACT	p.T1426T	RAI1_uc002grn.1_Silent_p.T1426T	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1426						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GTTTCAAAACCGAGGCCTTCA	0.557												
MYO15A	51168	broad.mit.edu	37	17	18023437	18023437	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:18023437G>A	uc010vxh.1	+	2	1661	c.1323G>A	c.(1321-1323)GCG>GCA	p.A441A		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	441	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CAGAGGACGCGGGCGTAGAGC	0.657												
LLGL1	3996	broad.mit.edu	37	17	18136088	18136088	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:18136088C>T	uc002gsp.2	+	4	425	c.364C>T	c.(364-366)CCC>TCC	p.P122S		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	122					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					TTTCCAGCTGCCCAGCCGGCC	0.622												
FLII	2314	broad.mit.edu	37	17	18154644	18154644	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:18154644G>A	uc002gsr.1	-	13	1582	c.1531C>T	c.(1531-1533)CCT>TCT	p.P511S	FLII_uc002gsq.1_Missense_Mutation_p.P382S|FLII_uc010cpy.1_Missense_Mutation_p.P500S|FLII_uc010vxn.1_Missense_Mutation_p.P480S|FLII_uc010vxo.1_Missense_Mutation_p.P456S|FLII_uc002gss.1_Missense_Mutation_p.P510S	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	511	Interaction with ACTL6A.|Gelsolin-like 1.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					ACCAGCACAGGCACGAAGTTC	0.607												
TOP3A	7156	broad.mit.edu	37	17	18211732	18211732	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:18211732T>C	uc002gsx.1	-	3	476	c.247A>G	c.(247-249)ACC>GCC	p.T83A	TOP3A_uc002gsw.1_5'Flank|TOP3A_uc010vxs.1_Intron|TOP3A_uc010cqa.1_Intron	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	83	Toprim.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						ATTACCATGGTAACATTCTGA	0.353												
EPN2	22905	broad.mit.edu	37	17	19186555	19186555	+	Silent	SNP	C	C	T	rs115073761	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:19186555C>T	uc002gvd.3	+	3	571	c.123C>T	c.(121-123)ACC>ACT	p.T41T	EPN2_uc002gvc.2_Silent_p.T41T|EPN2_uc010vyn.1_Silent_p.T41T|EPN2_uc010cql.1_Intron|EPN2_uc002gve.3_Silent_p.T41T|EPN2_uc002gvf.3_Intron|EPN2_uc010vyo.1_Intron|EPN2_uc002gvg.1_Silent_p.T41T|EPN2_uc010vyp.1_Silent_p.T41T|EPN2_uc010vyq.1_Silent_p.T41T|EPN2_uc002gvh.1_Silent_p.T41T	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	41	ENTH.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CTCTGATGACCGAGATTGCCG	0.542												
KCNJ12	3768	broad.mit.edu	37	17	21319358	21319358	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:21319358C>T	uc002gyv.1	+	3	1409	c.704C>T	c.(703-705)CCG>CTG	p.P235L		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	235	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	CTCATCAAGCCGCGGGTCACC	0.637										Prostate(3;0.18)		
WSB1	26118	broad.mit.edu	37	17	25639361	25639361	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:25639361C>T	uc002gzd.1	+	9	1548	c.1232C>T	c.(1231-1233)TCC>TTC	p.S411F	WSB1_uc002gze.1_Missense_Mutation_p.S265F|WSB1_uc002gzf.1_RNA	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box-containing 1 isoform 1	411	SOCS box.				intracellular signal transduction	intracellular	protein binding				0	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CCGATTCCTTCCAAGCTTTTG	0.478												
PIGS	94005	broad.mit.edu	37	17	26888587	26888587	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:26888587C>T	uc002hbo.2	-	6	902	c.529G>A	c.(529-531)GAG>AAG	p.E177K	PIGS_uc002hbn.2_Missense_Mutation_p.E169K|PIGS_uc010wap.1_Missense_Mutation_p.E116K	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	177	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(2)|urinary_tract(1)|kidney(1)	4	Lung NSC(42;0.00431)					TTAAAGGCCTCCCGGTGCATT	0.577												
SUPT6H	6830	broad.mit.edu	37	17	27001380	27001380	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:27001380T>A	uc002hby.2	+	3	279	c.189T>A	c.(187-189)GAT>GAA	p.D63E	SUPT6H_uc010crt.2_Missense_Mutation_p.D63E	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	63	Asp/Glu-rich.			DDDEDEGEEDEGS -> ATAPGHPKLSEGR (in Ref. 1; AAC50821).	chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					ACGATGATGATGAAGATGAAG	0.473												
SUPT6H	6830	broad.mit.edu	37	17	27005589	27005589	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:27005589G>T	uc002hby.2	+	10	1233	c.1143G>T	c.(1141-1143)AAG>AAT	p.K381N	SUPT6H_uc010crt.2_Missense_Mutation_p.K381N	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	381					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					TCTATCGAAAGGAGTATGTGG	0.483												
RAB34	83871	broad.mit.edu	37	17	27041919	27041919	+	Splice_Site	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:27041919C>T	uc002hce.2	-	9	1229	c.605_splice	c.e9-1	p.G202_splice	RAB34_uc002hcg.2_Splice_Site_p.G194_splice|RAB34_uc002hcf.2_Splice_Site_p.G203_splice|RAB34_uc010was.1_Splice_Site_p.G259_splice|RAB34_uc010wat.1_Splice_Site_p.G251_splice|RAB34_uc002hch.2_Splice_Site_p.G202_splice|RAB34_uc010wau.1_Splice_Site_p.G180_splice|RAB34_uc010wav.1_Intron	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN	Ras-related protein RAB34 isoform 1						protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	Lung NSC(42;0.00431)					ACATTCTCACCTGACACAGAG	0.582												
TLCD1	116238	broad.mit.edu	37	17	27051740	27051740	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:27051740T>C	uc002hco.2	-	4	647	c.532A>G	c.(532-534)ATG>GTG	p.M178V	TLCD1_uc010waw.1_Missense_Mutation_p.M131V	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	TLC domain containing 1 isoform 1	178	TLC.|Helical; (Potential).					integral to membrane					0	Lung NSC(42;0.00431)					AGAAAGTACATGACCAGGTTC	0.507												
PHF12	57649	broad.mit.edu	37	17	27233509	27233509	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:27233509C>T	uc002hdg.1	-	15	3237	c.2707G>A	c.(2707-2709)GAA>AAA	p.E903K	PHF12_uc010wbb.1_Missense_Mutation_p.E885K	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	903					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CTTGGCTCTTCGTCCTGTTTC	0.612												
PIPOX	51268	broad.mit.edu	37	17	27371936	27371936	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:27371936G>A	uc002hdr.1	+	2	500	c.174G>A	c.(172-174)GCG>GCA	p.A58A		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	58					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TCCGAAAGGCGTACCTGGAAG	0.527												
CORO6	84940	broad.mit.edu	37	17	27942982	27942982	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:27942982G>C	uc002hel.2	-	9	1276	c.1274C>G	c.(1273-1275)GCC>GGC	p.A425G	CORO6_uc002hem.2_Missense_Mutation_p.A191G|CORO6_uc002hen.2_Missense_Mutation_p.A191G	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	425					actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						GGCGTCGCTGGCCGACTGGCT	0.692												
CORO6	84940	broad.mit.edu	37	17	27943832	27943832	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:27943832C>T	uc002hel.2	-	7	894	c.892G>A	c.(892-894)GAC>AAC	p.D298N	CORO6_uc002hem.2_Missense_Mutation_p.D64N|CORO6_uc002hen.2_Missense_Mutation_p.D64N	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	298	WD 5.				actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						GGCGGCTCGTCGGTAATCTCA	0.587												
CORO6	84940	broad.mit.edu	37	17	27948260	27948260	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:27948260G>A	uc002hel.2	-	1	182	c.180C>T	c.(178-180)ATC>ATT	p.I60I		NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	60					actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						GAGGCAGGACGATGAAGGCAC	0.582												
EFCAB5	374786	broad.mit.edu	37	17	28417587	28417587	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:28417587T>C	uc002het.2	+	20	4024	c.3832T>C	c.(3832-3834)TGT>CGT	p.C1278R	EFCAB5_uc010cse.2_Missense_Mutation_p.C1033R|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	1278							calcium ion binding			ovary(1)|skin(1)	2						GATGTTGTTGTGTCAAGAATA	0.408												
TBC1D29	26083	broad.mit.edu	37	17	28886746	28886746	+	Splice_Site	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:28886746T>C	uc002hfh.2	+	1	161	c.12_splice	c.e1+2	p.L4_splice	TBC1D29_uc002hfi.2_Splice_Site	NM_015594	NP_056409	Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29							intracellular	Rab GTPase activator activity				0		Myeloproliferative disorder(56;0.0255)				GGGCATCTGGTGAGTTTATGG	0.622												
LRRC37B	114659	broad.mit.edu	37	17	30348616	30348616	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:30348616C>T	uc002hgu.2	+	1	462	c.451C>T	c.(451-453)CGC>TGC	p.R151C	LRRC37B_uc010wbx.1_Missense_Mutation_p.R69C|LRRC37B_uc010csu.2_Missense_Mutation_p.R151C	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	151	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TCAGCTTCCTCGCCTCAAGTG	0.498												
CDK5R1	8851	broad.mit.edu	37	17	30815228	30815228	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:30815228C>T	uc002hhn.2	+	2	811	c.590C>T	c.(589-591)ACG>ATG	p.T197M	CDK5R1_uc010wca.1_Missense_Mutation_p.T197M|CDK5R1_uc010ctc.2_Intron	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1	197					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			GGCTTCATCACGCCGGCCAAC	0.652												
LIG3	3980	broad.mit.edu	37	17	33326360	33326360	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:33326360C>T	uc002hik.1	+	15	2256	c.2148C>T	c.(2146-2148)TAC>TAT	p.Y716Y	LIG3_uc002hij.2_Silent_p.Y716Y	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	716					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)	TGGGCTGCTACGACCCTGGCA	0.582								Other_BER_factors				
UNC45B	146862	broad.mit.edu	37	17	33479993	33479993	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:33479993C>T	uc002hja.2	+	5	560	c.463C>T	c.(463-465)CGG>TGG	p.R155W	UNC45B_uc002hjb.2_Missense_Mutation_p.R155W|UNC45B_uc002hjc.2_Missense_Mutation_p.R155W|UNC45B_uc010cto.2_Missense_Mutation_p.R155W	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	155					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				GGCTGATAAGCGGGAAAAGGT	0.577												
CCL5	6352	broad.mit.edu	37	17	34207248	34207248	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:34207248G>A	uc002hkf.2	-	1	130	c.62C>T	c.(61-63)GCA>GTA	p.A21V		NM_002985	NP_002976	P13501	CCL5_HUMAN	small inducible cytokine A5 precursor	21					activation of phospholipase D activity|cell-cell signaling|cellular protein complex assembly|chemokine-mediated signaling pathway|dendritic cell chemotaxis|eosinophil chemotaxis|immune response|leukocyte cell-cell adhesion|macrophage chemotaxis|negative regulation of T cell apoptosis|negative regulation of viral genome replication|neutrophil activation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of homotypic cell-cell adhesion|positive regulation of innate immune response|positive regulation of macrophage chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of T cell apoptosis|positive regulation of T cell chemotaxis|positive regulation of T cell proliferation|positive regulation of translational initiation|positive regulation of tyrosine phosphorylation of STAT protein|positive regulation of viral genome replication|protein tetramerization|regulation of chronic inflammatory response|response to virus	extracellular space	CCR1 chemokine receptor binding|CCR4 chemokine receptor binding|CCR5 chemokine receptor binding|chemoattractant activity|chemokine activity|chemokine receptor antagonist activity|protein homodimerization activity|protein self-association|receptor signaling protein tyrosine kinase activator activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0183)		GGAGGCAGATGCAGGAGCGCA	0.597												
ACACA	31	broad.mit.edu	37	17	35578667	35578667	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:35578667G>A	uc002hnm.2	-	29	3741	c.3550C>T	c.(3550-3552)CTG>TTG	p.L1184L	ACACA_uc002hnk.2_Silent_p.L1106L|ACACA_uc002hnl.2_Silent_p.L1126L|ACACA_uc002hnn.2_Silent_p.L1184L|ACACA_uc002hno.2_Silent_p.L1221L|ACACA_uc010cuz.2_Silent_p.L1184L	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1184					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GATGTGGGCAGCATGAACTGG	0.483												
SYNRG	11276	broad.mit.edu	37	17	35899332	35899332	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:35899332C>T	uc002hoa.2	-	17	3465	c.3382G>A	c.(3382-3384)GCA>ACA	p.A1128T	SYNRG_uc010wde.1_Missense_Mutation_p.A1050T|SYNRG_uc010wdf.1_Missense_Mutation_p.A1050T|SYNRG_uc002hoc.2_Missense_Mutation_p.A1049T|SYNRG_uc002hoe.2_Missense_Mutation_p.A1050T|SYNRG_uc002hod.2_Missense_Mutation_p.A1005T|SYNRG_uc010wdg.1_Missense_Mutation_p.A922T|SYNRG_uc002hob.2_Missense_Mutation_p.A1128T	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	1128					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						CATTCATATGCATATCTCTCA	0.413												
SYNRG	11276	broad.mit.edu	37	17	35902100	35902100	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:35902100A>T	uc002hoa.2	-	15	3259	c.3176T>A	c.(3175-3177)CTG>CAG	p.L1059Q	SYNRG_uc010wde.1_Missense_Mutation_p.L981Q|SYNRG_uc010wdf.1_Missense_Mutation_p.L981Q|SYNRG_uc002hoc.2_Missense_Mutation_p.L980Q|SYNRG_uc002hoe.2_Missense_Mutation_p.L981Q|SYNRG_uc002hod.2_Missense_Mutation_p.L936Q|SYNRG_uc010wdg.1_Missense_Mutation_p.L853Q|SYNRG_uc002hob.2_Missense_Mutation_p.L1059Q|SYNRG_uc002hof.2_Missense_Mutation_p.L725Q	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	1059					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						AAAGGTTGCCAGCTCACTTTT	0.358												
GPR179	440435	broad.mit.edu	37	17	36492878	36492878	+	Missense_Mutation	SNP	G	G	A	rs147753316	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:36492878G>A	uc002hpz.2	-	4	1231	c.1210C>T	c.(1210-1212)CGC>TGC	p.R404C		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	404	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CGGCGGCAGCGGTAGGAGACC	0.597												
PIP4K2B	8396	broad.mit.edu	37	17	36926744	36926744	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:36926744G>A	uc002hqs.2	-	9	1596	c.1115C>T	c.(1114-1116)ACG>ATG	p.T372M	PIP4K2B_uc010cvp.2_5'Flank	NM_003559	NP_003550	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	372	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			ovary(1)	1						ATCGTATGGCGTGAGGATATC	0.547												
ERBB2	2064	broad.mit.edu	37	17	37873670	37873670	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:37873670C>A	uc002hso.2	+	15	2073	c.1835C>A	c.(1834-1836)CCC>CAC	p.P612H	ERBB2_uc002hsm.2_Missense_Mutation_p.P582H|ERBB2_uc010cwa.2_Missense_Mutation_p.P597H|ERBB2_uc002hsp.2_Missense_Mutation_p.P415H|ERBB2_uc010cwb.2_Missense_Mutation_p.P612H|ERBB2_uc010wek.1_Missense_Mutation_p.P336H|ERBB2_uc002hsl.2_Missense_Mutation_p.P582H	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	612	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TCCTACATGCCCATCTGGAAG	0.592		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)		
IKZF3	22806	broad.mit.edu	37	17	37922200	37922200	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:37922200C>T	uc002hsu.2	-	8	1435	c.1373G>A	c.(1372-1374)CGC>CAC	p.R458H	IKZF3_uc002htd.2_Missense_Mutation_p.R424H|IKZF3_uc010cwd.2_Missense_Mutation_p.R315H|IKZF3_uc002hsv.2_Missense_Mutation_p.R385H|IKZF3_uc010cwe.2_Missense_Mutation_p.R324H|IKZF3_uc010cwf.2_Missense_Mutation_p.R276H|IKZF3_uc010cwg.2_Missense_Mutation_p.R237H|IKZF3_uc002hsw.2_Missense_Mutation_p.R419H|IKZF3_uc002hsx.2_Missense_Mutation_p.R402H|IKZF3_uc002hsy.2_Missense_Mutation_p.R419H|IKZF3_uc002hsz.2_Missense_Mutation_p.R363H|IKZF3_uc002hta.2_Missense_Mutation_p.R380H|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.R371H|IKZF3_uc002htc.2_Missense_Mutation_p.R211H|IKZF3_uc010wel.1_Missense_Mutation_p.R211H	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	458	C2H2-type 5.				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GAAGAGGACGCGGCAGTGGTC	0.537												
IKZF3	22806	broad.mit.edu	37	17	37949116	37949116	+	Silent	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:37949116T>A	uc002hsu.2	-	4	296	c.234A>T	c.(232-234)GGA>GGT	p.G78G	IKZF3_uc002htd.2_Silent_p.G44G|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Silent_p.G44G|IKZF3_uc010cwe.2_Silent_p.G78G|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Silent_p.G78G|IKZF3_uc002hsx.2_Silent_p.G78G|IKZF3_uc002hsy.2_Silent_p.G78G|IKZF3_uc002hsz.2_Silent_p.G78G|IKZF3_uc002hta.2_Silent_p.G78G|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Intron|IKZF3_uc002htc.2_5'UTR	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	78					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTTCTGCATTTCCCATGGGTT	0.353												
GSDMB	55876	broad.mit.edu	37	17	38062399	38062399	+	Missense_Mutation	SNP	C	C	T	rs141827116	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:38062399C>T	uc010cwj.2	-	7	858	c.853G>A	c.(853-855)GGC>AGC	p.G285S	GSDMB_uc010cwi.2_Missense_Mutation_p.G32S|GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_RNA|GSDMB_uc002htg.2_Missense_Mutation_p.G263S|GSDMB_uc002hth.2_Missense_Mutation_p.G272S|GSDMB_uc010wem.1_Missense_Mutation_p.G276S	NM_001042471	NP_001035936	Q8TAX9	GSDMB_HUMAN	gasdermin B isoform 1	280						cytoplasm				breast(1)|pancreas(1)	2						TCCTCCTTGCCGAGGCACTTA	0.517												
RAPGEFL1	51195	broad.mit.edu	37	17	38345469	38345469	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:38345469G>A	uc010cwu.1	+	6	828	c.338G>A	c.(337-339)CGT>CAT	p.R113H	RAPGEFL1_uc010wfd.1_Missense_Mutation_p.R49H	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor	319					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GTCTTCTGCCGTGTATACATG	0.527												
KRT34	3885	broad.mit.edu	37	17	39535281	39535281	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:39535281G>A	uc002hwm.2	-	6	1162	c.1150C>T	c.(1150-1152)CTG>TTG	p.L384L		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	384	Rod.|Coil 2.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)				ACGTCCAGCAGCACCTGGTAC	0.602												
KRT35	3886	broad.mit.edu	37	17	39634622	39634622	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:39634622C>T	uc002hws.2	-	5	1033	c.990G>A	c.(988-990)CAG>CAA	p.Q330Q		NM_002280	NP_002271	Q92764	KRT35_HUMAN	keratin 35	330	Rod.|Coil 2.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			ovary(1)|skin(1)	2		Breast(137;0.000286)				CCATGCTGTGCTGAGCCTGCA	0.617												
KRT9	3857	broad.mit.edu	37	17	39727639	39727639	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:39727639G>T	uc002hxe.3	-	1	672	c.606C>A	c.(604-606)TCC>TCA	p.S202S	JUP_uc010wfs.1_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	keratin 9	202	Rod.|Linker 1.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Breast(137;0.000307)				TATAATAAGGGGAGTAGTTCT	0.443												
KRT14	3861	broad.mit.edu	37	17	39743060	39743060	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:39743060G>T	uc002hxf.1	-	1	88	c.27C>A	c.(25-27)ACC>ACA	p.T9T	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Silent_p.T9T	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	9	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)				AGCTGGAGGAGGTGAACTGGC	0.547												
JUP	3728	broad.mit.edu	37	17	39925369	39925369	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:39925369C>T	uc002hxq.2	-	4	836	c.559G>A	c.(559-561)GCC>ACC	p.A187T	JUP_uc010wfs.1_Missense_Mutation_p.A187T|JUP_uc002hxr.2_Missense_Mutation_p.A187T|JUP_uc002hxs.2_Missense_Mutation_p.A187T	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	187					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		ACGACAGCGGCCACCAGCTGG	0.662												
JUP	3728	broad.mit.edu	37	17	39925702	39925702	+	Missense_Mutation	SNP	C	C	T	rs146581757		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:39925702C>T	uc002hxq.2	-	3	713	c.436G>A	c.(436-438)GAG>AAG	p.E146K	JUP_uc010wfs.1_Missense_Mutation_p.E146K|JUP_uc002hxr.2_Missense_Mutation_p.E146K|JUP_uc002hxs.2_Missense_Mutation_p.E146K	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	146	ARM 1.				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TTGGTGAGCTCGGGCAGGGCG	0.657												
KLHL10	317719	broad.mit.edu	37	17	39998199	39998199	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:39998199G>A	uc010cxr.2	+	2	461	c.319G>A	c.(319-321)GAC>AAC	p.D107N	KLHL10_uc010wfv.1_Missense_Mutation_p.D101N|KLHL10_uc010wfw.1_Missense_Mutation_p.D19N	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	107						cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				TATCACACCGGACAATGTGGA	0.483												
STAT5B	6777	broad.mit.edu	37	17	40375477	40375477	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:40375477G>A	uc002hzh.2	-	5	642	c.473C>T	c.(472-474)ACA>ATA	p.T158I	STAT5B_uc002hzi.3_Missense_Mutation_p.T158I	NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	158					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|skin(1)	6		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CTCATTCTCTGTGTCCTGCGT	0.542												
FAM134C	162427	broad.mit.edu	37	17	40735516	40735516	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:40735516C>A	uc002ial.2	-	7	913	c.810G>T	c.(808-810)CAG>CAT	p.Q270H	FAM134C_uc010wgq.1_Missense_Mutation_p.Q70H|FAM134C_uc002iam.1_Missense_Mutation_p.Q70H|FAM134C_uc010cyk.1_Missense_Mutation_p.Q173H	NM_178126	NP_835227	Q86VR2	F134C_HUMAN	hypothetical protein LOC162427	270						integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CTCAAGATACCTGAGGACAGA	0.517												
WNK4	65266	broad.mit.edu	37	17	40947844	40947844	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:40947844G>A	uc002ibj.2	+	16	3245	c.3224G>A	c.(3223-3225)CGT>CAT	p.R1075H	WNK4_uc010wgx.1_Missense_Mutation_p.R739H|CCDC56_uc010wgz.1_Silent_p.H138H	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1075					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GAGAGCGACCGTGCAGCTGAG	0.617												
AOC3	8639	broad.mit.edu	37	17	41004852	41004852	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:41004852G>A	uc002ibv.2	+	1	1652	c.1492G>A	c.(1492-1494)GCA>ACA	p.A498T		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	498	Extracellular (Potential).				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CATCAGCTCGGCATTCCTCTT	0.547												
AOC3	8639	broad.mit.edu	37	17	41006589	41006589	+	Silent	SNP	C	C	T	rs146596949	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:41006589C>T	uc002ibv.2	+	2	1885	c.1725C>T	c.(1723-1725)GCC>GCT	p.A575A		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	575	Extracellular (Potential).				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGGAGCAGGCCGCCTTCCTCG	0.642												
MPP3	4356	broad.mit.edu	37	17	41891581	41891581	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:41891581G>A	uc002iei.3	-	15	1324	c.1158C>T	c.(1156-1158)CGC>CGT	p.R386R	MPP3_uc002ieh.2_Silent_p.R411R|MPP3_uc002iej.2_RNA	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	386	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GAACCACCAGGCGGGGCCGCT	0.627												
MPP3	4356	broad.mit.edu	37	17	41907096	41907096	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:41907096G>A	uc002iei.3	-	7	533	c.367C>T	c.(367-369)CCT>TCT	p.P123S	MPP3_uc002ieh.2_Missense_Mutation_p.P148S|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Missense_Mutation_p.P123S|MPP3_uc010wik.1_Missense_Mutation_p.P148S|MPP3_uc010czj.1_3'UTR	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	123					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		ATATTGTCAGGCAGAGGCGGG	0.557												
HDAC5	10014	broad.mit.edu	37	17	42161219	42161219	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:42161219G>T	uc002ifd.1	-	17	2520	c.2309C>A	c.(2308-2310)CCC>CAC	p.P770H	HDAC5_uc002ife.1_Missense_Mutation_p.P770H|HDAC5_uc002iff.1_Missense_Mutation_p.P771H|HDAC5_uc010czp.1_Missense_Mutation_p.P685H|HDAC5_uc002ifg.1_Missense_Mutation_p.P80H|HDAC5_uc002ifh.2_Missense_Mutation_p.P770H	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	770	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CTGGCTGATGGGGCCTGCATG	0.428												
HDAC5	10014	broad.mit.edu	37	17	42162397	42162397	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:42162397T>G	uc002ifd.1	-	15	2388	c.2177A>C	c.(2176-2178)AAG>ACG	p.K726T	HDAC5_uc002ife.1_Missense_Mutation_p.K726T|HDAC5_uc002iff.1_Missense_Mutation_p.K727T|HDAC5_uc010czp.1_Intron|HDAC5_uc002ifg.1_Missense_Mutation_p.K36T|HDAC5_uc002ifh.2_Missense_Mutation_p.K726T	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	726	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TACCTCGCACTTGCTAAGCAG	0.552												
HDAC5	10014	broad.mit.edu	37	17	42165014	42165014	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:42165014C>A	uc002ifd.1	-	13	1861	c.1650G>T	c.(1648-1650)GAG>GAT	p.E550D	HDAC5_uc002ife.1_Missense_Mutation_p.E550D|HDAC5_uc002iff.1_Missense_Mutation_p.E551D|HDAC5_uc010czp.1_Missense_Mutation_p.E550D|HDAC5_uc002ifg.1_5'Flank|HDAC5_uc002ifh.2_Missense_Mutation_p.E550D	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	550					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CCTCTGTCTCCTCAGGGTGGG	0.632												
UBTF	7343	broad.mit.edu	37	17	42290299	42290299	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:42290299T>C	uc002igb.2	-	6	615	c.548A>G	c.(547-549)CAC>CGC	p.H183R	UBTF_uc002igc.2_Missense_Mutation_p.H183R|UBTF_uc010czs.2_Missense_Mutation_p.H183R|UBTF_uc002igd.2_Missense_Mutation_p.H183R|UBTF_uc010czt.2_Missense_Mutation_p.H183R|UBTF_uc002ige.2_Missense_Mutation_p.H183R	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	183					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TAGGTCGGGGTGATCCTCCCT	0.587												
SLC4A1	6521	broad.mit.edu	37	17	42328618	42328618	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:42328618G>A	uc002igf.3	-	19	2713	c.2564C>T	c.(2563-2565)GCC>GTC	p.A855V		NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	855	Helical; (Potential).|Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGCCAGGGAGGCCGGCGTGGA	0.642												
ITGA2B	3674	broad.mit.edu	37	17	42453457	42453457	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:42453457T>C	uc002igt.1	-	24	2476	c.2444A>G	c.(2443-2445)TAT>TGT	p.Y815C	ITGA2B_uc002igu.1_Missense_Mutation_p.Y296C	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	815	Extracellular (Potential).				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CAATACCTCATAGGTGTGCTC	0.627											OREG0024460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DBF4B	80174	broad.mit.edu	37	17	42818725	42818725	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:42818725T>C	uc002ihf.2	+	10	948	c.735T>C	c.(733-735)CAT>CAC	p.H245H	DBF4B_uc010wjb.1_Intron|DBF4B_uc002ihe.2_Silent_p.H59H|DBF4B_uc010wjc.1_Silent_p.H229H	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B isoform 1	245					cell cycle	nucleus	nucleic acid binding|zinc ion binding				0		Prostate(33;0.0322)				CTTTCCATCATCAGTTTAAAT	0.507												
EFTUD2	9343	broad.mit.edu	37	17	42940144	42940144	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:42940144G>A	uc002ihn.2	-	16	1805	c.1544C>T	c.(1543-1545)ACC>ATC	p.T515I	EFTUD2_uc010wje.1_Missense_Mutation_p.T480I|EFTUD2_uc010wjf.1_Missense_Mutation_p.T505I	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	515						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				ATCCTCCAGGGTGTAGTTCTC	0.582												
FMNL1	752	broad.mit.edu	37	17	43318567	43318567	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:43318567C>T	uc002iin.2	+	13	1502	c.1302C>T	c.(1300-1302)AGC>AGT	p.S434S	FMNL1_uc002iiq.2_Silent_p.S12S|FMNL1_uc010dag.2_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	434	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						AACAGCTAAGCCAGGCGCGCA	0.612												
C17orf46	124783	broad.mit.edu	37	17	43332690	43332690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:43332690G>A	uc002iis.1	-	4	955	c.859C>T	c.(859-861)CGA>TGA	p.R287*	LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Nonsense_Mutation_p.R266*	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	hypothetical protein LOC124783	287										large_intestine(1)|ovary(1)	2						TCTGGCTCTCGCTCCTCCACA	0.562												
C17orf46	124783	broad.mit.edu	37	17	43333435	43333435	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:43333435C>A	uc002iis.1	-	4	210	c.114G>T	c.(112-114)GAG>GAT	p.E38D	LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Missense_Mutation_p.E17D	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	hypothetical protein LOC124783	38										large_intestine(1)|ovary(1)	2						GCATGTCTGCCTCCAGCTGAA	0.547												
ARHGAP27	201176	broad.mit.edu	37	17	43473180	43473180	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:43473180G>A	uc002iix.2	-	16	1848	c.1399C>T	c.(1399-1401)CGT>TGT	p.R467C	ARHGAP27_uc010dak.2_Missense_Mutation_p.R440C	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27 isoform a	808	Rho-GAP.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)					ACCAAGTCACGCACACAGCGG	0.697												
KIAA1267	284058	broad.mit.edu	37	17	44110528	44110528	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:44110528C>T	uc002ikb.2	-	12	2840	c.2755G>A	c.(2755-2757)GCC>ACC	p.A919T	KIAA1267_uc002ikc.2_Missense_Mutation_p.A919T|KIAA1267_uc002ikd.2_Missense_Mutation_p.A919T|KIAA1267_uc010dav.2_Missense_Mutation_p.A918T|KIAA1267_uc010wkb.1_Missense_Mutation_p.A250T|KIAA1267_uc010wkc.1_Missense_Mutation_p.A187T	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	919						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				GCATGCAGGGCGGCGAAGGCT	0.602												
KIAA1267	284058	broad.mit.edu	37	17	44115995	44115995	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:44115995G>T	uc002ikb.2	-	9	2535	c.2450C>A	c.(2449-2451)CCT>CAT	p.P817H	KIAA1267_uc002ikc.2_Missense_Mutation_p.P817H|KIAA1267_uc002ikd.2_Missense_Mutation_p.P817H|KIAA1267_uc010dav.2_Missense_Mutation_p.P817H|KIAA1267_uc010wkb.1_Missense_Mutation_p.P148H|KIAA1267_uc010wkc.1_Missense_Mutation_p.P85H	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	817						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				ACTGTGTGGAGGATGGTGGGT	0.527												
CDC27	996	broad.mit.edu	37	17	45219283	45219283	+	Missense_Mutation	SNP	T	T	C	rs76995821		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:45219283T>C	uc002ild.3	-	12	1614	c.1487A>G	c.(1486-1488)TAC>TGC	p.Y496C	CDC27_uc002ile.3_Missense_Mutation_p.Y502C|CDC27_uc002ilf.3_Missense_Mutation_p.Y495C|CDC27_uc010wkp.1_Missense_Mutation_p.Y435C|CDC27_uc010wkq.1_Intron	NM_001256	NP_001247	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 2	496					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			lung(2)|breast(2)|ovary(1)	5						ACCAGTATTGTAGTGGTGAGA	0.373												
SNX11	29916	broad.mit.edu	37	17	46189966	46189966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:46189966C>T	uc002inf.1	+	4	427	c.73C>T	c.(73-75)CGA>TGA	p.R25*	SNX11_uc010wlg.1_Nonsense_Mutation_p.R17*|SNX11_uc010wlh.1_Nonsense_Mutation_p.R17*|SNX11_uc010wli.1_5'UTR|SNX11_uc010wlj.1_Intron|SNX11_uc002ing.1_Nonsense_Mutation_p.R25*|SNX11_uc002inh.1_Nonsense_Mutation_p.R25*	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	25	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding				0						TCAGGACCCCCGAGTGCAGAA	0.507												
HOXB3	3213	broad.mit.edu	37	17	46629702	46629702	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:46629702G>A	uc002inn.2	-	1	535	c.135C>T	c.(133-135)GGC>GGT	p.G45G	HOXB3_uc010wlm.1_5'UTR|HOXB3_uc010dbf.2_Silent_p.G45G|HOXB3_uc010dbg.2_Silent_p.G45G|HOXB3_uc002ino.2_Silent_p.G45G|HOXB3_uc010wlk.1_Intron|HOXB3_uc010wll.1_5'UTR	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	45					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCTGGTAGTCGCCCTCCAGGT	0.647												
HOXB5	3215	broad.mit.edu	37	17	46669679	46669679	+	Silent	SNP	G	G	A	rs140096647		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:46669679G>A	uc002inr.2	-	2	761	c.702C>T	c.(700-702)TCC>TCT	p.S234S	HOXB3_uc010wlm.1_5'Flank|HOXB3_uc010dbf.2_5'Flank|HOXB3_uc010dbg.2_5'Flank	NM_002147	NP_002138	P09067	HXB5_HUMAN	homeobox B5	234	Homeobox.					nucleus	sequence-specific DNA binding				0						TCTGGCGCTCGGACAGGCAGA	0.577												
HOXB9	3219	broad.mit.edu	37	17	46703540	46703540	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:46703540C>T	uc002inx.2	-	1	296	c.92G>A	c.(91-93)GGC>GAC	p.G31D		NM_024017	NP_076922	P17482	HXB9_HUMAN	homeobox B9	31					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CGCGTACTGGCCAGAAGGAAA	0.617												
TTLL6	284076	broad.mit.edu	37	17	46862565	46862565	+	Splice_Site	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:46862565T>C	uc010wlo.1	-	14	1797	c.1762_splice	c.e14-1	p.Y588_splice	TTLL6_uc002iob.2_Splice_Site_p.Y281_splice|TTLL6_uc010dbi.2_Splice_Site|TTLL6_uc002ioc.2_Splice_Site_p.Y341_splice|TTLL6_uc002iod.2_Splice_Site_p.Y435_splice	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6							cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity				0						CTGGATGTACTGAGGGAGGAA	0.483												
COL1A1	1277	broad.mit.edu	37	17	48269838	48269838	+	Missense_Mutation	SNP	G	G	T	rs72651631		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:48269838G>T	uc002iqm.2	-	29	2107	c.1981C>A	c.(1981-1983)CAG>AAG	p.Q661K		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	661	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	CCTCTTACCTGTTCACCAGGT	0.557			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta					
EME1	146956	broad.mit.edu	37	17	48458214	48458214	+	Missense_Mutation	SNP	C	C	T	rs150098713		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:48458214C>T	uc002iqs.1	+	9	1700	c.1627C>T	c.(1627-1629)CGC>TGC	p.R543C	EME1_uc010dbp.1_Missense_Mutation_p.R556C|EME1_uc010dbq.1_RNA|uc010wmk.1_5'Flank	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	essential meiotic endonuclease 1 homolog 1	543					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			ATCCACTTCTCGCCGCATTGG	0.502								Direct_reversal_of_damage|Homologous_recombination				
CACNA1G	8913	broad.mit.edu	37	17	48692727	48692727	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:48692727C>A	uc002irk.1	+	27	5137	c.4765C>A	c.(4765-4767)CAG>AAG	p.Q1589K	CACNA1G_uc002irj.1_Missense_Mutation_p.Q1555K|CACNA1G_uc002irl.1_Missense_Mutation_p.Q1566K|CACNA1G_uc002irm.1_Missense_Mutation_p.Q1555K|CACNA1G_uc002irn.1_Missense_Mutation_p.Q1548K|CACNA1G_uc002iro.1_Missense_Mutation_p.Q1555K|CACNA1G_uc002irp.1_Missense_Mutation_p.Q1589K|CACNA1G_uc002irq.1_Missense_Mutation_p.Q1566K|CACNA1G_uc002irr.1_Missense_Mutation_p.Q1589K|CACNA1G_uc002irs.1_Missense_Mutation_p.Q1578K|CACNA1G_uc002irt.1_Missense_Mutation_p.Q1571K|CACNA1G_uc002irv.1_Missense_Mutation_p.Q1578K|CACNA1G_uc002irw.1_Missense_Mutation_p.Q1566K|CACNA1G_uc002iru.1_Missense_Mutation_p.Q1555K|CACNA1G_uc002irx.1_Missense_Mutation_p.Q1502K|CACNA1G_uc002iry.1_Missense_Mutation_p.Q1491K|CACNA1G_uc002irz.1_Missense_Mutation_p.Q1502K|CACNA1G_uc002isa.1_Missense_Mutation_p.Q1468K|CACNA1G_uc002isb.1_Missense_Mutation_p.Q1509K|CACNA1G_uc002isc.1_Missense_Mutation_p.Q1491K|CACNA1G_uc002isd.1_Missense_Mutation_p.Q1484K|CACNA1G_uc002ise.1_Missense_Mutation_p.Q1457K|CACNA1G_uc002isf.1_Missense_Mutation_p.Q1484K|CACNA1G_uc002isg.1_Missense_Mutation_p.Q1450K|CACNA1G_uc002ish.1_Missense_Mutation_p.Q1457K|CACNA1G_uc002isi.1_Missense_Mutation_p.Q1445K	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1589	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ATCAGAAGCCCAGTGCAAACC	0.637												
ABCC3	8714	broad.mit.edu	37	17	48753397	48753397	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:48753397C>T	uc002isl.2	+	22	3093	c.3013C>T	c.(3013-3015)CAG>TAG	p.Q1005*	ABCC3_uc002isn.2_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	1005	ABC transmembrane type-1 2.|Extracellular (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AGACAGTAGACAGAACAACAC	0.542												
NME1-NME2	654364	broad.mit.edu	37	17	49247383	49247383	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:49247383G>A	uc002itk.2	+	8	987	c.734G>A	c.(733-735)CGT>CAT	p.R245H	NME1-NME2_uc002itj.2_Missense_Mutation_p.R220H|NME2_uc002itl.2_Missense_Mutation_p.R105H|NME2_uc002itm.2_Missense_Mutation_p.R105H|NME2_uc002itn.2_Missense_Mutation_p.R105H|NME2_uc002ito.2_Missense_Mutation_p.R105H	NM_002512	NP_002503	P22392	NDKB_HUMAN	nucleoside diphosphate kinase B	105		ATP.			cell adhesion|CTP biosynthetic process|GTP biosynthetic process|negative regulation of apoptosis|nucleobase, nucleoside and nucleotide interconversion|positive regulation of epithelial cell proliferation|positive regulation of keratinocyte differentiation|UTP biosynthetic process	cytosol|lamellipodium|nucleus|ruffle	ATP binding|DNA binding|metal ion binding|nucleoside diphosphate kinase activity|protein binding|protein histidine kinase activity|sequence-specific DNA binding transcription factor activity				0			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GGCACCATTCGTGGGGACTTC	0.532												
KIF2B	84643	broad.mit.edu	37	17	51901613	51901613	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:51901613G>T	uc002iua.2	+	1	1375	c.1219G>T	c.(1219-1221)GGG>TGG	p.G407W	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	407	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						GGTGGAAATAGGGAATAGCTG	0.522												
NOG	9241	broad.mit.edu	37	17	54672213	54672213	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:54672213G>A	uc002iup.2	+	1	1154	c.629G>A	c.(628-630)CGC>CAC	p.R210H		NM_005450	NP_005441	Q13253	NOGG_HUMAN	noggin precursor	210					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity				0	Breast(9;5.24e-08)					TGTCAGCGGCGCGGGGGCCAG	0.677												
COIL	8161	broad.mit.edu	37	17	55019424	55019424	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:55019424A>G	uc002iuu.2	-	6	1650	c.1619T>C	c.(1618-1620)GTG>GCG	p.V540A		NM_004645	NP_004636	P38432	COIL_HUMAN	coilin	540						Cajal body|nucleolus	protein C-terminus binding			ovary(1)	1	Breast(9;6.15e-08)					AGCGTACTCCACTACCTCGGC	0.448												
AKAP1	8165	broad.mit.edu	37	17	55183827	55183827	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:55183827T>C	uc002iux.2	+	2	1233	c.1002T>C	c.(1000-1002)AAT>AAC	p.N334N	AKAP1_uc010wnl.1_Silent_p.N334N|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Silent_p.N334N	NM_003488	NP_003479	Q92667	AKAP1_HUMAN	A-kinase anchor protein 1 precursor	334					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			ovary(1)	1	Breast(9;5.46e-08)					TGGATAGAAATGAGGAGGGCT	0.502												
MSI2	124540	broad.mit.edu	37	17	55478773	55478773	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:55478773G>A	uc002iuz.1	+	6	519	c.346G>A	c.(346-348)GGG>AGG	p.G116R	MSI2_uc010wnm.1_Missense_Mutation_p.G94R|MSI2_uc002iva.2_Missense_Mutation_p.G112R	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	musashi 2 isoform a	116	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|pancreas(1)	2	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		ATTTGTAGGCGGGTTATCTGC	0.458			T	HOXA9	CML							
EPX	8288	broad.mit.edu	37	17	56274428	56274428	+	Silent	SNP	C	C	T	rs150544366	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:56274428C>T	uc002ivq.2	+	7	1016	c.930C>T	c.(928-930)GAC>GAT	p.D310D		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	310		Calcium (By similarity).			hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						CCTTTGTGGACGCCAGCATGG	0.597												
RNF43	54894	broad.mit.edu	37	17	56435590	56435590	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:56435590T>C	uc002iwf.2	-	8	3503	c.1547A>G	c.(1546-1548)GAT>GGT	p.D516G	RNF43_uc010wnv.1_Missense_Mutation_p.D475G|RNF43_uc002iwh.3_Missense_Mutation_p.D516G|RNF43_uc002iwg.3_Missense_Mutation_p.D516G|RNF43_uc010dcw.2_Missense_Mutation_p.D389G	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	516	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGCTGGGGATCCCCTTTAGG	0.587												
PPM1E	22843	broad.mit.edu	37	17	57057445	57057445	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:57057445G>A	uc002iwx.2	+	7	1448	c.1321G>A	c.(1321-1323)GTG>ATG	p.V441M	PPM1E_uc010ddd.2_Missense_Mutation_p.V204M	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	450	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CTATGACACCGTGAACCCTGA	0.498												
TRIM37	4591	broad.mit.edu	37	17	57093008	57093008	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:57093008G>A	uc002iwy.3	-	21	2983	c.2539C>T	c.(2539-2541)CCT>TCT	p.P847S	TRIM37_uc002iwz.3_Missense_Mutation_p.P847S|TRIM37_uc002ixa.3_Missense_Mutation_p.P725S|TRIM37_uc010woc.1_Missense_Mutation_p.P813S	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	847						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCAACCGCAGGCAAGCCACTG	0.398									Mulibrey_Nanism			
DHX40	79665	broad.mit.edu	37	17	57654702	57654702	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:57654702C>T	uc002ixn.1	+	8	1196	c.1049C>T	c.(1048-1050)ACG>ATG	p.T350M	DHX40_uc010woe.1_Missense_Mutation_p.T273M|DHX40_uc002ixo.1_Missense_Mutation_p.T251M	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	350	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATTTCTGCAACGTCTTTGACA	0.333												
HEATR6	63897	broad.mit.edu	37	17	58121401	58121401	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:58121401G>T	uc002iyk.1	-	20	3086	c.3069C>A	c.(3067-3069)GCC>GCA	p.A1023A	HEATR6_uc010ddk.1_Silent_p.A562A|HEATR6_uc010wos.1_Silent_p.A743A	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1023							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GGACGGAAAGGGCAGCTGCAG	0.542												
HEATR6	63897	broad.mit.edu	37	17	58147144	58147144	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:58147144C>T	uc002iyk.1	-	7	884	c.867G>A	c.(865-867)CCG>CCA	p.P289P	HEATR6_uc010wos.1_Silent_p.P121P	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	289							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ACTGAGGAAGCGGAGTTGGGT	0.413												
INTS2	57508	broad.mit.edu	37	17	59967232	59967232	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:59967232C>T	uc002izn.2	-	15	1999	c.1923G>A	c.(1921-1923)CAG>CAA	p.Q641Q	INTS2_uc002izm.2_Silent_p.Q633Q	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	641					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						TACTGAAACGCTGATTAAGGC	0.373												
MED13	9969	broad.mit.edu	37	17	60088303	60088303	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:60088303G>A	uc002izo.2	-	9	1652	c.1575C>T	c.(1573-1575)ACC>ACT	p.T525T	MED13_uc002izp.2_Silent_p.T141T	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	525					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						TTGCCATTTCGGTGCCATGCA	0.463												
MRC2	9902	broad.mit.edu	37	17	60753167	60753167	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:60753167G>A	uc002jad.2	+	10	1988	c.1586G>A	c.(1585-1587)AGC>AAC	p.S529N	MRC2_uc002jac.2_Missense_Mutation_p.S529N|MRC2_uc010ddq.1_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	529	Extracellular (Potential).|C-type lectin 3.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						ACGTGGCACAGCCCATCCTGC	0.587												
KCNH6	81033	broad.mit.edu	37	17	61607783	61607783	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:61607783G>A	uc002jay.2	+	4	635	c.555G>A	c.(553-555)ACG>ACA	p.T185T	KCNH6_uc002jax.1_Silent_p.T185T|KCNH6_uc010wpl.1_Silent_p.T62T|KCNH6_uc010wpm.1_Silent_p.T185T|KCNH6_uc002jaz.1_Silent_p.T185T	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	185	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	CACAGTTCACGCTCAACTTCG	0.607												
MAP3K3	4215	broad.mit.edu	37	17	61766937	61766937	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:61766937A>G	uc002jbg.2	+	11	1224	c.905A>G	c.(904-906)CAA>CGA	p.Q302R	MAP3K3_uc002jbe.2_Missense_Mutation_p.Q333R|MAP3K3_uc002jbf.2_Missense_Mutation_p.Q333R|MAP3K3_uc002jbh.2_Missense_Mutation_p.Q329R|MAP3K3_uc010wpo.1_Missense_Mutation_p.Q217R|MAP3K3_uc010wpp.1_Missense_Mutation_p.Q298R	NM_002401	NP_002392	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	302					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						CGGCGTCATCAAGGCAACTTG	0.597												
PSMC5	5705	broad.mit.edu	37	17	61908745	61908745	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:61908745G>A	uc002jcb.2	+	9	970	c.929G>A	c.(928-930)CGC>CAC	p.R310H	PSMC5_uc010ddy.2_Missense_Mutation_p.R287H|PSMC5_uc010ddz.2_Missense_Mutation_p.R231H|PSMC5_uc002jcc.2_Missense_Mutation_p.R302H|PSMC5_uc002jcd.2_Missense_Mutation_p.R302H	NM_002805	NP_002796	P62195	PRS8_HUMAN	proteasome 26S ATPase subunit 5	310					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			large_intestine(1)	1						CGCCCAGGGCGCATTGACAGA	0.532												
APOH	350	broad.mit.edu	37	17	64219843	64219843	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:64219843A>G	uc002jfn.3	-	4	447	c.388T>C	c.(388-390)TGG>CGG	p.W130R		NM_000042	NP_000033	P02749	APOH_HUMAN	apolipoprotein H precursor	130	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding				0			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TCCGGGCTCCATTTTCCTTCC	0.323												
APOH	350	broad.mit.edu	37	17	64224206	64224206	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:64224206C>T	uc002jfn.3	-	2	232	c.173G>A	c.(172-174)CGA>CAA	p.R58Q		NM_000042	NP_000033	P02749	APOH_HUMAN	apolipoprotein H precursor	58	Sushi 1.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding				0			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CATCCCTCCTCGGGACACATA	0.468												
DNAI2	64446	broad.mit.edu	37	17	72308361	72308361	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:72308361C>T	uc002jkf.2	+	12	1813	c.1714C>T	c.(1714-1716)CCA>TCA	p.P572S	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_Intron|uc002jkh.1_5'Flank|DNAI2_uc002jki.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	572					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						AAAGCTGACGCCAGTGCCTGT	0.343									Kartagener_syndrome			
KIF19	124602	broad.mit.edu	37	17	72351078	72351078	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:72351078C>T	uc002jkm.3	+	19	3002	c.2864C>T	c.(2863-2865)ACG>ATG	p.T955M		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	955					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						AGCCAGAACACGGGTCAGTAT	0.612												
SLC9A3R1	9368	broad.mit.edu	37	17	72764669	72764669	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:72764669C>T	uc002jlo.2	+	6	1174	c.951C>T	c.(949-951)TCC>TCT	p.S317S	SLC9A3R1_uc002jlp.2_Silent_p.S161S	NM_004252	NP_004243	O14745	NHRF1_HUMAN	sodium/hydrogen exchanger regulatory factor 1	317					apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association				0						CCTCCTCCTCCGACCCCATCC	0.587												
GRIN2C	2905	broad.mit.edu	37	17	72848528	72848528	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:72848528G>T	uc002jlt.1	-	3	778	c.622C>A	c.(622-624)CCG>ACG	p.P208T	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.P208T|GRIN2C_uc002jlv.1_3'UTR	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	208	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CGCGCGCGCGGCCCTCCCGGG	0.756												
FDXR	2232	broad.mit.edu	37	17	72861876	72861876	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:72861876C>T	uc002jly.2	-	6	661	c.574G>A	c.(574-576)GCC>ACC	p.A192T	FDXR_uc010wri.1_Missense_Mutation_p.A140T|FDXR_uc010wrj.1_Missense_Mutation_p.A190T|FDXR_uc002jlw.2_5'UTR|FDXR_uc002jlx.2_Missense_Mutation_p.A192T|FDXR_uc002jmc.2_Missense_Mutation_p.A193T|FDXR_uc010wrk.1_Missense_Mutation_p.A223T|FDXR_uc010wrl.1_Missense_Mutation_p.A235T|FDXR_uc002jma.2_Missense_Mutation_p.A193T|FDXR_uc010wrm.1_Missense_Mutation_p.A152T|FDXR_uc002jlz.2_Missense_Mutation_p.A184T|FDXR_uc002jmb.2_RNA	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	192					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGATGCGGGCCACGTCCAGA	0.647												
OTOP2	92736	broad.mit.edu	37	17	72927105	72927105	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:72927105G>A	uc010wrp.1	+	7	1464	c.1375G>A	c.(1375-1377)GCC>ACC	p.A459T		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	459						integral to membrane				ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)					CACGTTGTCCGCCTGCCCACC	0.662												
C17orf28	283987	broad.mit.edu	37	17	72956280	72956280	+	Silent	SNP	G	G	A	rs144217591	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:72956280G>A	uc002jmj.3	-	7	941	c.792C>T	c.(790-792)TAC>TAT	p.Y264Y	C17orf28_uc010wrs.1_Silent_p.Y63Y|C17orf28_uc002jmk.2_Silent_p.Y263Y	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	264						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					AGGGGATCCCGTAGCCCACAG	0.612												
NUP85	79902	broad.mit.edu	37	17	73230754	73230754	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:73230754T>C	uc002jng.1	+	17	1898	c.1638T>C	c.(1636-1638)CGT>CGC	p.R546R	NUP85_uc010dgd.1_Silent_p.R501R|NUP85_uc010wrv.1_Silent_p.R500R|NUP85_uc002jnh.1_Silent_p.R149R	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	546					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AGTTCCACCGTATGTACGGGG	0.522												
KIAA0195	9772	broad.mit.edu	37	17	73494345	73494345	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:73494345C>A	uc002jnz.3	+	28	3854	c.3579C>A	c.(3577-3579)AGC>AGA	p.S1193R	KIAA0195_uc010wsa.1_Missense_Mutation_p.S1203R|KIAA0195_uc010wsb.1_Missense_Mutation_p.S833R|KIAA0195_uc002job.3_Missense_Mutation_p.S201R	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	1193					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACTGCAGAGCTTCTGTGACA	0.612												
LLGL2	3993	broad.mit.edu	37	17	73565074	73565074	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:73565074G>A	uc002joh.2	+	13	1492	c.1338G>A	c.(1336-1338)ACG>ACA	p.T446T	LLGL2_uc002joi.2_Silent_p.T446T|LLGL2_uc010dgg.1_Silent_p.T446T|LLGL2_uc002joj.2_Silent_p.T435T|LLGL2_uc010wsd.1_Silent_p.T73T	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	446	WD 8.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGGACGGCACGGTGCGGTTCT	0.657												
ITGB4	3691	broad.mit.edu	37	17	73729676	73729676	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:73729676C>T	uc002jpg.2	+	13	1747	c.1560C>T	c.(1558-1560)TGC>TGT	p.C520C	ITGB4_uc002jph.2_Silent_p.C520C|ITGB4_uc010dgo.2_Silent_p.C520C|ITGB4_uc002jpi.3_Silent_p.C520C|ITGB4_uc010dgp.1_Silent_p.C520C|ITGB4_uc002jpj.2_Silent_p.C520C|ITGB4_uc010wsh.1_Silent_p.C75C	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	520	II.|Extracellular (Potential).|Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGTGCCAGTGCGGGCACTGTG	0.642												
ITGB4	3691	broad.mit.edu	37	17	73736063	73736063	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:73736063G>A	uc002jpg.2	+	20	2544	c.2357G>A	c.(2356-2358)GGC>GAC	p.G786D	ITGB4_uc002jph.2_Missense_Mutation_p.G786D|ITGB4_uc010dgo.2_Missense_Mutation_p.G786D|ITGB4_uc002jpi.3_Missense_Mutation_p.G786D|ITGB4_uc010dgp.1_Missense_Mutation_p.G786D|ITGB4_uc002jpj.2_Missense_Mutation_p.G786D	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	786	Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AACCTCAAGGGCCGTGACGTG	0.622												
TRIM65	201292	broad.mit.edu	37	17	73887136	73887136	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:73887136G>A	uc002jpx.2	-	6	1314	c.1278C>T	c.(1276-1278)TGC>TGT	p.C426C		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	tripartite motif-containing 65	426	B30.2/SPRY.					intracellular	zinc ion binding				0			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTCCTGGACGCAGAGCCCCC	0.687												
EVPL	2125	broad.mit.edu	37	17	74018608	74018608	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:74018608G>A	uc002jqi.2	-	5	720	c.492C>T	c.(490-492)TGC>TGT	p.C164C	EVPL_uc010wss.1_Silent_p.C164C|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	164	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						ACTGGCCTGCGCAGACCTGCT	0.662												
GALR2	8811	broad.mit.edu	37	17	74073369	74073369	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:74073369G>A	uc002jqm.1	+	2	1102	c.1021G>A	c.(1021-1023)GAC>AAC	p.D341N	ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	341	Cytoplasmic (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						CGAGTCCAGCGACCTGTTGCA	0.751												
ZACN	353174	broad.mit.edu	37	17	74077646	74077646	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:74077646G>A	uc002jqn.2	+	7	773	c.690G>A	c.(688-690)GCG>GCA	p.A230A	ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_Intron|EXOC7_uc002jqp.1_3'UTR|EXOC7_uc010dgv.1_3'UTR|EXOC7_uc002jqs.2_3'UTR|EXOC7_uc002jqq.2_3'UTR|EXOC7_uc010wsw.1_3'UTR|EXOC7_uc010wsx.1_3'UTR|EXOC7_uc002jqr.2_3'UTR|EXOC7_uc010wsv.1_3'UTR	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	230	Extracellular (Potential).|Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity				0						AGAACACGGCGCTCAAGTCCA	0.667												
QRICH2	84074	broad.mit.edu	37	17	74274105	74274105	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:74274105C>T	uc002jrd.1	-	15	4764	c.4584G>A	c.(4582-4584)CTG>CTA	p.L1528L	QRICH2_uc010wsz.1_Intron|QRICH2_uc010dgw.1_Silent_p.L372L	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1528							protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						ACTGGGCGTGCAGCAGCTCGC	0.622												
SPHK1	8877	broad.mit.edu	37	17	74383602	74383602	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:74383602G>A	uc002jrf.1	+	8	1899	c.1090G>A	c.(1090-1092)GGT>AGT	p.G364S	SPHK1_uc002jrg.1_Missense_Mutation_p.G313S|SPHK1_uc002jrh.2_Missense_Mutation_p.G378S|SPHK1_uc002jrj.2_Missense_Mutation_p.G450S|SPHK1_uc002jri.2_Missense_Mutation_p.G364S|SPHK1_uc002jrk.3_Missense_Mutation_p.G364S|uc010wtd.1_RNA	NM_001142602	NP_001136074	Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1 isoform 3	364					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			kidney(1)	1						GATGGTCAGCGGTTGCGTGGA	0.617												
TMC8	147138	broad.mit.edu	37	17	76137109	76137109	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:76137109G>A	uc002jup.2	+	16	2479	c.2097G>A	c.(2095-2097)GCG>GCA	p.A699A	TMC8_uc002juq.2_Silent_p.A476A	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	699	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TGGATGCCGCGGGACTGCGTT	0.751									Epidermodysplasia_Verruciformis_Familial_Clustering_of			
AFMID	125061	broad.mit.edu	37	17	76200813	76200813	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:76200813G>A	uc002jva.3	+	5	400	c.385G>A	c.(385-387)GCC>ACC	p.A129T	AFMID_uc002jvb.3_Intron|AFMID_uc002juz.3_Missense_Mutation_p.A129T	NM_001010982	NP_001010982	Q63HM1	AFMID_HUMAN	arylformamidase isoform 1	129						cytosol|nucleus	arylformamidase activity			large_intestine(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			TTACGGCATCGCCCCCAAAGG	0.587												
DNAH17	8632	broad.mit.edu	37	17	76430214	76430214	+	Missense_Mutation	SNP	G	G	A	rs151281798		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:76430214G>A	uc010dhp.1	-	20	3343	c.3121C>T	c.(3121-3123)CGC>TGC	p.R1041C	DNAH17_uc002jvq.2_Missense_Mutation_p.R326C|DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCGAACTTGCGCCTCTCTGCC	0.602												
CYTH1	9267	broad.mit.edu	37	17	76677079	76677079	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:76677079G>A	uc002jvw.2	-	11	1005	c.934C>T	c.(934-936)CGG>TGG	p.R312W	CYTH1_uc010wtv.1_RNA	NM_017456	NP_059430	Q15438	CYH1_HUMAN	cytohesin 1 isoform 2	313	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						TCCACTTCCCGGATACTCAGA	0.408												
CYTH1	9267	broad.mit.edu	37	17	76704344	76704344	+	Splice_Site	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:76704344C>A	uc002jvw.2	-	3	177	c.106_splice	c.e3-1	p.R36_splice	CYTH1_uc010wtw.1_Splice_Site|CYTH1_uc010wtx.1_Splice_Site	NM_017456	NP_059430	Q15438	CYH1_HUMAN	cytohesin 1 isoform 2						regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						CCTTCAGCCTCTATAAAACAG	0.423												
ENGASE	64772	broad.mit.edu	37	17	77076401	77076401	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:77076401T>C	uc002jwv.2	+	5	686	c.678T>C	c.(676-678)TTT>TTC	p.F226F	ENGASE_uc002jwu.1_Silent_p.F226F|ENGASE_uc010wtz.1_Silent_p.F40F|ENGASE_uc002jww.2_5'UTR	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	226						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						TCACTCAGTTTTTTCGTTTTG	0.607												
CCDC40	55036	broad.mit.edu	37	17	78011979	78011979	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:78011979C>T	uc010dht.2	+	2	114	c.87C>T	c.(85-87)AGC>AGT	p.S29S	TBC1D16_uc002jxj.2_5'Flank|CCDC40_uc010wub.1_Silent_p.S29S	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	29					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATAATGAAAGCCACATGGTAA	0.353												
CCDC40	55036	broad.mit.edu	37	17	78024074	78024074	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:78024074G>A	uc010dht.2	+	7	1178	c.1151G>A	c.(1150-1152)CGC>CAC	p.R384H	CCDC40_uc010wub.1_Missense_Mutation_p.R384H|CCDC40_uc002jxm.3_Missense_Mutation_p.R167H	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	384	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AACGAGGAGCGCAAAAAGTGT	0.637												
SLC26A11	284129	broad.mit.edu	37	17	78226455	78226455	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:78226455G>T	uc002jyb.1	+	18	2030	c.1761G>T	c.(1759-1761)CAG>CAT	p.Q587H	SLC26A11_uc002jyc.1_Missense_Mutation_p.Q587H|SLC26A11_uc002jyd.1_Missense_Mutation_p.Q587H|SLC26A11_uc010dhv.1_Missense_Mutation_p.Q587H	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	587	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CAGGGACCCAGCCCTACAACA	0.512												
RNF213	57674	broad.mit.edu	37	17	78337430	78337430	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:78337430A>G	uc002jyh.1	+	16	6032	c.5809A>G	c.(5809-5811)ATG>GTG	p.M1937V	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.M319V	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATTTGCCGCAATGGCCTGCAC	0.632												
AZI1	22994	broad.mit.edu	37	17	79166624	79166624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:79166624G>A	uc002jzp.1	-	19	2550	c.2350C>T	c.(2350-2352)CAG>TAG	p.Q784*	AZI1_uc002jzm.1_Nonsense_Mutation_p.Q211*|AZI1_uc002jzn.1_Nonsense_Mutation_p.Q781*|AZI1_uc002jzo.1_Intron|AZI1_uc010wum.1_Intron|AZI1_uc002jzq.2_Intron	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	784					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			cactgctcctgctccaggtgc	0.557												
C17orf56	146705	broad.mit.edu	37	17	79202746	79202746	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:79202746G>A	uc002jzu.1	-	12	1582	c.1560C>T	c.(1558-1560)TTC>TTT	p.F520F	C17orf56_uc002jzr.1_Silent_p.F190F|C17orf56_uc002jzs.1_Silent_p.F436F|C17orf56_uc002jzt.1_Silent_p.F436F|C17orf56_uc002jzv.1_Silent_p.F368F|uc002jzw.1_RNA	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	hypothetical protein LOC146705	520						integral to membrane					0	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCAGGAACGCGAAAGCTGACG	0.637												
C17orf56	146705	broad.mit.edu	37	17	79207478	79207478	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:79207478C>T	uc002jzu.1	-	6	436	c.414G>A	c.(412-414)CCG>CCA	p.P138P	C17orf56_uc002jzr.1_5'Flank|C17orf56_uc002jzs.1_5'UTR|C17orf56_uc002jzt.1_5'UTR|C17orf56_uc002jzv.1_5'UTR|uc002jzw.1_Intron	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	hypothetical protein LOC146705	138						integral to membrane					0	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGGGAGCCAGCGGCAACACGG	0.657												
TSPAN10	83882	broad.mit.edu	37	17	79615000	79615000	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:79615000C>T	uc010die.2	+	4	834	c.744C>T	c.(742-744)CGC>CGT	p.R248R	TSPAN10_uc010did.1_RNA	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	tetraspanin 10	248						integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TCGACCCCCGCGAAGATGGAG	0.652												
HGS	9146	broad.mit.edu	37	17	79668137	79668137	+	Silent	SNP	G	G	A	rs140803494		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:79668137G>A	uc002kbg.2	+	21	2276	c.2199G>A	c.(2197-2199)GCG>GCA	p.A733A	MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank	NM_004712	NP_004703	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine	733	Interaction with NF2.|Gln-rich.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CCTACATCGCGGGGCAGCAGC	0.622												
DYSFIP1	116729	broad.mit.edu	37	17	79792733	79792733	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:79792733G>T	uc002kbj.1	-	1	194	c.97C>A	c.(97-99)CTG>ATG	p.L33M	FAM195B_uc010wuy.1_5'Flank|FAM195B_uc010wuz.1_5'Flank|FAM195B_uc002kjd.2_5'Flank|DYSFIP1_uc002kbk.1_Missense_Mutation_p.L33M	NM_001007533	NP_001007534	Q86WC6	DYSI1_HUMAN	dysferlin-interacting protein 1	33											0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.00858)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCCAAGAACAGGACATCATTA	0.637												
FASN	2194	broad.mit.edu	37	17	80044984	80044984	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:80044984C>A	uc002kdu.2	-	21	3486	c.3369G>T	c.(3367-3369)ACG>ACT	p.T1123T	FASN_uc002kdw.1_Silent_p.T339T	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	1123					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	ACCCCTCCTCCGTGTGGGGAG	0.667												
CCDC57	284001	broad.mit.edu	37	17	80115690	80115690	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:80115690G>A	uc002kdz.1	-	15	2530	c.2175C>T	c.(2173-2175)CAC>CAT	p.H725H	CCDC57_uc002kdx.1_Silent_p.H725H|CCDC57_uc010dik.1_Silent_p.H233H	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	725										ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CCGCTCCCCCGTGCTGGGCTA	0.677												
SLC16A3	9123	broad.mit.edu	37	17	80195293	80195293	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:80195293G>A	uc002kea.2	+	4	786	c.647G>A	c.(646-648)CGC>CAC	p.R216H	SLC16A3_uc002kee.2_Missense_Mutation_p.R216H|SLC16A3_uc002keb.2_Missense_Mutation_p.R216H|SLC16A3_uc002kec.2_Missense_Mutation_p.R216H|SLC16A3_uc002ked.2_Missense_Mutation_p.R216H	NM_001042422	NP_001035887	O15427	MOT4_HUMAN	solute carrier family 16, member 3	216	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			upper_aerodigestive_tract(1)|lung(1)	2	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	CCCTCCCGGCGCCTGCTAGAC	0.716												
FOXK2	3607	broad.mit.edu	37	17	80543922	80543922	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:80543922C>T	uc002kfn.2	+	7	1593	c.1422C>T	c.(1420-1422)GTC>GTT	p.V474V	FOXK2_uc002kfm.1_Silent_p.V474V|FOXK2_uc010diu.2_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	forkhead box K2	474					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TTCACGTCGTCCACCAGATCC	0.652												
CETN1	1068	broad.mit.edu	37	18	580690	580690	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:580690G>A	uc002kko.1	+	1	324	c.282G>A	c.(280-282)ACG>ACA	p.T94T		NM_004066	NP_004057	Q12798	CETN1_HUMAN	centrin 1	94	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			upper_aerodigestive_tract(1)|ovary(1)	2						CCGTGATGACGCAGAAGATGT	0.507												
MYL12B	103910	broad.mit.edu	37	18	3277796	3277796	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:3277796T>C	uc010dkl.2	+	4	539	c.380T>C	c.(379-381)CTG>CCG	p.L127P	MYL12B_uc002klt.3_Missense_Mutation_p.L105P|MYL12B_uc010wyv.1_Missense_Mutation_p.L127P	NM_001144944	NP_001138416	O14950	ML12B_HUMAN	myosin regulatory light chain MRCL2 isoform A	127	EF-hand 2.				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding				0						AGAGAGCTGCTGACAACCATG	0.428												
EPB41L3	23136	broad.mit.edu	37	18	5489033	5489033	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:5489033G>A	uc002kmt.1	-	2	236	c.150C>T	c.(148-150)GCC>GCT	p.A50A	EPB41L3_uc010wzh.1_Silent_p.A50A|EPB41L3_uc002kmu.1_Silent_p.A50A|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Silent_p.A72A|EPB41L3_uc002kmv.1_5'UTR	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	50					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GCGCTGCAGCGGCGGCGAACT	0.542												
LAMA1	284217	broad.mit.edu	37	18	6995425	6995425	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:6995425A>T	uc002knm.2	-	34	4921	c.4827T>A	c.(4825-4827)AAT>AAA	p.N1609K	LAMA1_uc010wzj.1_Missense_Mutation_p.N1085K	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1609	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTTTTGCATATTTTCTTTTA	0.353												
LAMA1	284217	broad.mit.edu	37	18	7037643	7037643	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:7037643G>A	uc002knm.2	-	12	1765	c.1671C>T	c.(1669-1671)ACC>ACT	p.T557T	LAMA1_uc010wzj.1_Silent_p.T33T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	557	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCATGACCGCGGTGTTGTTGA	0.587												
KIAA0802	23255	broad.mit.edu	37	18	8825900	8825900	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:8825900G>A	uc002knr.2	+	15	4534	c.4392G>A	c.(4390-4392)CTG>CTA	p.L1464L	KIAA0802_uc002knq.2_Silent_p.L1423L|KIAA0802_uc002kns.2_Silent_p.L804L	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1774											0						AGAAGGGGCTGCGGGCCGGCA	0.642												
PPP4R1	9989	broad.mit.edu	37	18	9583131	9583131	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:9583131C>T	uc002koe.1	-	9	1020	c.902G>A	c.(901-903)AGT>AAT	p.S301N	PPP4R1_uc010wzo.1_Intron|PPP4R1_uc002kod.1_Missense_Mutation_p.S284N|PPP4R1_uc010wzp.1_RNA	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	301	HEAT 9.				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			skin(1)	1						TGAAGGATCACTGATCAAATT	0.358												
IMPA2	3613	broad.mit.edu	37	18	12014330	12014330	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:12014330G>A	uc002kqp.1	+	5	662	c.448G>A	c.(448-450)GCC>ACC	p.A150T	IMPA2_uc002kqo.1_5'UTR|IMPA2_uc010dlb.1_Missense_Mutation_p.A134T|IMPA2_uc002kqq.1_Missense_Mutation_p.A30T	NM_014214	NP_055029	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	150					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(2)	2					Lithium(DB01356)	GGGTCGGGGCGCCTTCTGCAA	0.572												
CEP192	55125	broad.mit.edu	37	18	13068413	13068413	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:13068413G>A	uc010xac.1	+	24	4894	c.4814G>A	c.(4813-4815)AGC>AAC	p.S1605N	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.S1130N|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.S27N|CEP192_uc002krw.2_5'Flank	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1605										ovary(4)|pancreas(1)	5						AAACAGATCAGCTCTTCAGGT	0.308												
C18orf19	125228	broad.mit.edu	37	18	13682035	13682035	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:13682035G>A	uc010dlh.2	-	3	474	c.42C>T	c.(40-42)CGC>CGT	p.R14R	C18orf19_uc010dlg.2_Silent_p.R14R|C18orf19_uc010dli.2_Silent_p.R14R|C18orf19_uc002ksj.3_Silent_p.R14R|C18orf19_uc010dlj.2_Intron	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN	hypothetical protein LOC125228	14						integral to membrane				breast(2)	2						AGCATGTCCTGCGTGCCAGTC	0.393												
MC2R	4158	broad.mit.edu	37	18	13884978	13884978	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:13884978C>T	uc002ksp.1	-	2	717	c.540G>A	c.(538-540)TCG>TCA	p.S180S		NM_000529	NP_000520	Q01718	ACTHR_HUMAN	melanocortin 2 receptor	180	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	p.S180L(1)		ovary(4)|skin(1)	5					Corticotropin(DB01285)|Cosyntropin(DB01284)	GCGGGAACAGCGACGTGAAGG	0.572												
ROCK1	6093	broad.mit.edu	37	18	18547719	18547719	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:18547719C>T	uc002kte.2	-	26	4127	c.3186G>A	c.(3184-3186)ATG>ATA	p.M1062I		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	1062	Potential.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					TTACCGCTTGCATGTCATTCA	0.338												
ROCK1	6093	broad.mit.edu	37	18	18564319	18564319	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:18564319G>A	uc002kte.2	-	20	3423	c.2482C>T	c.(2482-2484)CTT>TTT	p.L828F		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	828	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					TACTTCGTAAGCTGAGCTAAC	0.289												
ROCK1	6093	broad.mit.edu	37	18	18619444	18619444	+	Missense_Mutation	SNP	G	G	A	rs113763420	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:18619444G>A	uc002kte.2	-	9	1981	c.1040C>T	c.(1039-1041)ACG>ATG	p.T347M		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	347	AGC-kinase C-terminal.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					GTCTCGGAGCGTTTCCCAAGC	0.363												
SNRPD1	6632	broad.mit.edu	37	18	19192389	19192389	+	Translation_Start_Site	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:19192389G>T	uc002ktj.1	+	1	130	c.-1G>T	c.(-3-1)TAGGA>TATGA			NM_006938	NP_008869	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide						ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding|RNA binding				0						GGCGCCGCTAGGATGAAGCTC	0.627											OREG0024889	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ANKRD29	147463	broad.mit.edu	37	18	21218839	21218839	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:21218839C>T	uc002kun.2	-	4	461	c.304G>A	c.(304-306)GGA>AGA	p.G102R	ANKRD29_uc002kuo.2_Missense_Mutation_p.G102R	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	102	ANK 3.									ovary(3)|breast(1)	4	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTGGATGCTCCAAATCCAAAG	0.428												
OSBPL1A	114876	broad.mit.edu	37	18	21761173	21761173	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:21761173T>C	uc002kve.2	-	19	1922	c.1748A>G	c.(1747-1749)TAC>TGC	p.Y583C	OSBPL1A_uc002kvd.2_Missense_Mutation_p.Y70C|OSBPL1A_uc010xbc.1_Missense_Mutation_p.Y201C	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	583					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ATGCTCCATGTATTCAGTTAG	0.428												
IMPACT	55364	broad.mit.edu	37	18	22007894	22007894	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:22007894T>C	uc002kvh.3	+	2	160	c.48T>C	c.(46-48)ATT>ATC	p.I16I	IMPACT_uc002kvg.3_5'UTR	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN	Impact homolog	16	RWD.										0	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					ATGAGGAAATTGAAGCAATGG	0.323												
DSG1	1828	broad.mit.edu	37	18	28914054	28914054	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:28914054G>A	uc002kwp.2	+	8	1106	c.894G>A	c.(892-894)GAG>GAA	p.E298E		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	298	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGATGAAGAGTTCTCAGCTA	0.308												
DSG2	1829	broad.mit.edu	37	18	29122692	29122692	+	Silent	SNP	C	C	T	rs74578148	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:29122692C>T	uc002kwu.3	+	14	2399	c.2211C>T	c.(2209-2211)GGC>GGT	p.G737G	uc002kwv.3_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	737	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GGGCCACAGGCGCTATCATGA	0.547												
DSG2	1829	broad.mit.edu	37	18	29126573	29126573	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:29126573C>T	uc002kwu.3	+	15	3412	c.3224C>T	c.(3223-3225)ACG>ATG	p.T1075M	uc002kwv.3_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	1075	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGGAACACCACGGTGTCTGGA	0.478												
RNF138	51444	broad.mit.edu	37	18	29693731	29693731	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:29693731T>C	uc002kxg.2	+	4	739	c.300T>C	c.(298-300)CAT>CAC	p.H100H	RNF138_uc002kxh.2_Intron	NM_016271	NP_057355	Q8WVD3	RN138_HUMAN	ring finger protein 138 isoform 1	100					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding				0						GCATGAGACATCATTACAAAT	0.294												
KLHL14	57565	broad.mit.edu	37	18	30260437	30260437	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:30260437G>A	uc002kxm.1	-	6	1752	c.1364C>T	c.(1363-1365)TCC>TTC	p.S455F	KLHL14_uc010dmd.1_Missense_Mutation_p.P3S	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	455	Kelch 3.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						TGGCAAAGAGGACACATAGCG	0.453												
RPRD1A	55197	broad.mit.edu	37	18	33613688	33613688	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:33613688A>G	uc002kzf.1	-	2	270	c.264T>C	c.(262-264)GCT>GCC	p.A88A	RPRD1A_uc002kze.1_Silent_p.A52A|RPRD1A_uc002kzg.2_Silent_p.A88A|RPRD1A_uc010dmw.2_Silent_p.A52A|RPRD1A_uc010dmx.2_Silent_p.A88A	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing	88	CID.									ovary(1)|breast(1)	2						CATGCTTAAAAGCCTCCACTA	0.358												
MOCOS	55034	broad.mit.edu	37	18	33785130	33785130	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:33785130C>A	uc002kzq.3	+	6	1132	c.1109C>A	c.(1108-1110)CCT>CAT	p.P370H		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	370					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	AATGGAGCCCCTGTGGTGCGG	0.493												
FHOD3	80206	broad.mit.edu	37	18	34349257	34349257	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:34349257G>A	uc002kzt.1	+	23	4151	c.4054G>A	c.(4054-4056)GAT>AAT	p.D1352N	FHOD3_uc002kzs.1_Missense_Mutation_p.D1369N|FHOD3_uc010dmz.1_Missense_Mutation_p.D1084N|FHOD3_uc010dnb.1_Silent_p.L289L	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1352					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TATGGGAACTGATGACTCGCC	0.483												
CELF4	56853	broad.mit.edu	37	18	34853000	34853000	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:34853000C>T	uc002lae.2	-	7	1324	c.928G>A	c.(928-930)GCA>ACA	p.A310T	CELF4_uc010dnd.1_Missense_Mutation_p.A308T|CELF4_uc002lag.2_Missense_Mutation_p.A300T|CELF4_uc002laf.2_Missense_Mutation_p.A305T|CELF4_uc002lai.2_Missense_Mutation_p.A295T|CELF4_uc002lah.1_Missense_Mutation_p.A35T|CELF4_uc002laj.1_Missense_Mutation_p.R145H	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	310	Ala-rich.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						GTCATAGGTGCGGCCGCCAGG	0.657												
SLC14A1	6563	broad.mit.edu	37	18	43311062	43311062	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:43311062A>G	uc010xcn.1	+	5	553	c.234A>G	c.(232-234)GGA>GGG	p.G78G	SLC14A1_uc010dnk.2_Silent_p.G134G|SLC14A1_uc002lbf.3_Silent_p.G78G|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_5'UTR|SLC14A1_uc002lbh.3_Intron|SLC14A1_uc002lbi.3_Intron|SLC14A1_uc002lbj.3_Silent_p.G134G|SLC14A1_uc002lbk.3_Silent_p.G78G	NM_001146036	NP_001139508	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter),	78	Helical; (Potential).					integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|pancreas(1)	2						CCGTCAGTGGAATCCTGATTC	0.552												
ST8SIA5	29906	broad.mit.edu	37	18	44260339	44260339	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:44260339T>C	uc002lcj.1	-	7	1365	c.797A>G	c.(796-798)GAC>GGC	p.D266G	ST8SIA5_uc002lci.1_Missense_Mutation_p.D113G|ST8SIA5_uc010xcy.1_Missense_Mutation_p.D302G|ST8SIA5_uc010xcz.1_Missense_Mutation_p.D235G	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	266	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						TTCGAAGTCGTCCAGCACGTA	0.612												
KIAA0427	9811	broad.mit.edu	37	18	46287929	46287929	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:46287929G>A	uc002ldc.2	+	9	1525	c.1240G>A	c.(1240-1242)GTG>ATG	p.V414M	KIAA0427_uc002ldd.2_Missense_Mutation_p.V416M|KIAA0427_uc002lde.3_Missense_Mutation_p.V43M	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	414	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						GGGCGAGATCGTGCGCACAAT	0.597												
LIPG	9388	broad.mit.edu	37	18	47110024	47110024	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:47110024C>T	uc002ldv.2	+	8	1508	c.1256C>T	c.(1255-1257)GCC>GTC	p.A419V	LIPG_uc010xdh.1_Missense_Mutation_p.A345V	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	419	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)|skin(1)	2						TGGGAGGGGGCCTCTCAGTCT	0.587												
MYO5B	4645	broad.mit.edu	37	18	47463722	47463722	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:47463722G>A	uc002leb.2	-	15	2086	c.1798C>T	c.(1798-1800)CCT>TCT	p.P600S	MYO5B_uc002lec.1_Missense_Mutation_p.P599S	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	600	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		GTGGTGGCAGGAACAGGGTCC	0.502												
MBD1	4152	broad.mit.edu	37	18	47800112	47800112	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:47800112G>A	uc010dow.1	-	12	1705	c.1268C>T	c.(1267-1269)CCC>CTC	p.P423L	MBD1_uc002lef.2_Missense_Mutation_p.P174L|MBD1_uc002leg.2_Missense_Mutation_p.P373L|MBD1_uc010xdi.1_Missense_Mutation_p.P474L|MBD1_uc002leh.3_Missense_Mutation_p.P367L|MBD1_uc002len.2_Missense_Mutation_p.P423L|MBD1_uc002lei.3_Missense_Mutation_p.P423L|MBD1_uc002lej.3_Missense_Mutation_p.P367L|MBD1_uc002lek.3_Missense_Mutation_p.P374L|MBD1_uc002lel.3_Missense_Mutation_p.P400L|MBD1_uc002lem.3_Missense_Mutation_p.P423L|MBD1_uc010xdj.1_Missense_Mutation_p.P367L|MBD1_uc010xdk.1_Missense_Mutation_p.P448L|MBD1_uc010dox.1_Missense_Mutation_p.P400L|MBD1_uc002leo.2_Missense_Mutation_p.P423L	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	423					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AGCCAAGGTGGGCTTCAAGGT	0.627												
CXXC1	30827	broad.mit.edu	37	18	47811498	47811498	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:47811498C>T	uc002leq.3	-	7	1519	c.786G>A	c.(784-786)GCG>GCA	p.A262A	CXXC1_uc002lep.3_Silent_p.A119A|CXXC1_uc002ler.3_Silent_p.A262A|CXXC1_uc010doy.2_Silent_p.A262A|CXXC1_uc002les.2_Silent_p.A262A	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	262	Asp/Glu-rich (acidic).				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CTGTTGATGACGCCACTGCCC	0.602												
ELAC1	55520	broad.mit.edu	37	18	48513066	48513066	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:48513066C>T	uc002lez.2	+	4	809	c.703C>T	c.(703-705)CCC>TCC	p.P235S	SMAD4_uc010xdo.1_Intron	NM_018696	NP_061166	Q9H777	RNZ1_HUMAN	elaC homolog 1	235					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		TACAATTTCTCCCCAAGATGT	0.423												
SMAD4	4089	broad.mit.edu	37	18	48603108	48603108	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:48603108C>A	uc010xdp.1	+	11	1947	c.1409C>A	c.(1408-1410)CCT>CAT	p.P470H	SMAD4_uc002lfb.3_Missense_Mutation_p.P315H	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	470	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(2)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGAAACATCCCTGGCCCAGGA	0.463									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			
STARD6	147323	broad.mit.edu	37	18	51880423	51880423	+	Splice_Site	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:51880423C>T	uc010xdt.1	-	2	140	c.140_splice	c.e2+1	p.L47_splice		NM_139171	NP_631910	P59095	STAR6_HUMAN	START domain containing protein 6						lipid transport		lipid binding			ovary(1)	1				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		ATTGTACTCACAGATTTCCAT	0.299												
RAB27B	5874	broad.mit.edu	37	18	52556537	52556537	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:52556537C>T	uc002lfr.2	+	6	661	c.550C>T	c.(550-552)CGA>TGA	p.R184*		NM_004163	NP_004154	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	184					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity				0				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		AATCATGAAGCGAATGGAACA	0.418												
ONECUT2	9480	broad.mit.edu	37	18	55103818	55103818	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:55103818G>A	uc002lgo.2	+	1	902	c.870G>A	c.(868-870)TCG>TCA	p.S290S		NM_004852	NP_004843	O95948	ONEC2_HUMAN	one cut domain, family member 2	290					organ morphogenesis	nucleus	sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CCATGATGTCGCACCTGAACG	0.701												
ALPK2	115701	broad.mit.edu	37	18	56203450	56203450	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:56203450T>C	uc002lhj.3	-	5	4183	c.3969A>G	c.(3967-3969)GTA>GTG	p.V1323V	ALPK2_uc002lhk.1_Silent_p.V654V	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1323							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						TTCTCCAATGTACACTGATGG	0.507												
ALPK2	115701	broad.mit.edu	37	18	56204901	56204901	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:56204901T>C	uc002lhj.3	-	5	2732	c.2518A>G	c.(2518-2520)ACG>GCG	p.T840A	ALPK2_uc002lhk.1_Missense_Mutation_p.T171A	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	840							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						GCCAGTTCCGTATCTACAGAG	0.393												
GRP	2922	broad.mit.edu	37	18	56892894	56892894	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:56892894C>A	uc002lhv.2	+	2	408	c.310C>A	c.(310-312)CTG>ATG	p.L104M	GRP_uc002lhu.2_Missense_Mutation_p.L104M|GRP_uc002lhw.2_Missense_Mutation_p.L104M	NM_002091	NP_002082	P07492	GRP_HUMAN	gastrin-releasing peptide isoform 1	104					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity				0		Colorectal(73;0.0946)				ACCCAAGGCCCTGGGCAATCA	0.488												
GRP	2922	broad.mit.edu	37	18	56892898	56892898	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:56892898G>A	uc002lhv.2	+	2	412	c.314G>A	c.(313-315)GGC>GAC	p.G105D	GRP_uc002lhu.2_Missense_Mutation_p.G105D|GRP_uc002lhw.2_Missense_Mutation_p.G105D	NM_002091	NP_002082	P07492	GRP_HUMAN	gastrin-releasing peptide isoform 1	105					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity				0		Colorectal(73;0.0946)				AAGGCCCTGGGCAATCAGCAG	0.488												
CPLX4	339302	broad.mit.edu	37	18	56964004	56964004	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:56964004T>C	uc002lhy.2	-	3	596	c.409A>G	c.(409-411)ACC>GCC	p.T137A		NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN	complexin 4 precursor	137					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			ovary(1)	1		Colorectal(73;0.175)				TCTTTTATGGTATCCAAGTCC	0.468												
CDH20	28316	broad.mit.edu	37	18	59206373	59206373	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:59206373G>T	uc010dps.1	+	8	1537	c.1525G>T	c.(1525-1527)GGA>TGA	p.G509*	CDH20_uc002lif.2_Nonsense_Mutation_p.G503*	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	509	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				CGCCAAGGCAGGACAGGTAAG	0.448												
BCL2	596	broad.mit.edu	37	18	60985558	60985558	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:60985558C>A	uc002lit.1	-	2	835	c.342G>T	c.(340-342)GAG>GAT	p.E114D	BCL2_uc002liu.1_Missense_Mutation_p.E114D|BCL2_uc002liv.1_Missense_Mutation_p.E114D	NM_000633	NP_000624	P10415	BCL2_HUMAN	B-cell lymphoma protein 2 alpha isoform	114					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)	1		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	GGCTGGACATCTCGGCGAAGT	0.662			T	IGH@	NHL|CLL							
SERPINB11	89778	broad.mit.edu	37	18	61390517	61390517	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:61390517G>A	uc002ljk.3	+	9	1125	c.1063G>A	c.(1063-1065)GCT>ACT	p.A355T	SERPINB11_uc010xes.1_Missense_Mutation_p.A180T|SERPINB11_uc010dqd.2_Intron|SERPINB11_uc002ljj.3_Missense_Mutation_p.A241T|SERPINB11_uc010dqe.2_Missense_Mutation_p.A154T|SERPINB11_uc010dqf.2_Missense_Mutation_p.A153T	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B, member 11	355	RCL (By similarity).				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)	1		Esophageal squamous(42;0.129)				GGACAGCATCGCTGTAAAAAG	0.498												
ZNF516	9658	broad.mit.edu	37	18	74091570	74091570	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:74091570G>A	uc010dqx.1	-	3	2735	c.2500C>T	c.(2500-2502)CGG>TGG	p.R834W	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	834					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CGGGTGAACCGAGCAAGGAGC	0.592												
ZNF236	7776	broad.mit.edu	37	18	74592217	74592217	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:74592217C>T	uc002lmi.2	+	8	1325	c.1127C>T	c.(1126-1128)CCG>CTG	p.P376L	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.P376L	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	376					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGGCAGTCCCCGCAGCCTGGG	0.652												
ZNF236	7776	broad.mit.edu	37	18	74639294	74639294	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:74639294C>T	uc002lmi.2	+	24	4427	c.4229C>T	c.(4228-4230)ACG>ATG	p.T1410M	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1410					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAGCAGCTCACGGGGGAGCCT	0.552												
ZNF236	7776	broad.mit.edu	37	18	74668077	74668077	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:74668077G>A	uc002lmi.2	+	28	5243	c.5045G>A	c.(5044-5046)CGG>CAG	p.R1682Q	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1682					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTGCATGGCCGGGAGCGCATC	0.687												
SALL3	27164	broad.mit.edu	37	18	76754387	76754387	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:76754387A>G	uc002lmt.2	+	2	2396	c.2396A>G	c.(2395-2397)GAC>GGC	p.D799G	SALL3_uc010dra.2_Missense_Mutation_p.D406G	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	799				DDDMDE -> NDNLDK (in Ref. 2; CAB65124).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TACGATGACGACATGGACGAG	0.662												
SALL3	27164	broad.mit.edu	37	18	76757282	76757282	+	Missense_Mutation	SNP	C	C	T	rs144491707		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:76757282C>T	uc002lmt.2	+	3	3863	c.3863C>T	c.(3862-3864)ACG>ATG	p.T1288M	SALL3_uc010dra.2_Missense_Mutation_p.T823M	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	1288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGCCCATTCACGCGGTTTATC	0.562												
KCNG2	26251	broad.mit.edu	37	18	77623816	77623816	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:77623816G>A	uc010xfl.1	+	1	149	c.149G>A	c.(148-150)CGC>CAC	p.R50H		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	50	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CGCGCCTGCCGCGGCCACGAC	0.716												
KCNG2	26251	broad.mit.edu	37	18	77623926	77623926	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:77623926G>A	uc010xfl.1	+	1	259	c.259G>A	c.(259-261)GCA>ACA	p.A87T		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	87	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GCTTTTGCGCGCAGGGAAGCT	0.706												
KCNG2	26251	broad.mit.edu	37	18	77659196	77659196	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:77659196C>T	uc010xfl.1	+	2	781	c.781C>T	c.(781-783)CCG>TCG	p.P261S		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	261	Helical; Name=Segment S3; (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GGCGCTCCTGCCGTTCTACGT	0.697												
KCNG2	26251	broad.mit.edu	37	18	77659756	77659756	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:77659756C>T	uc010xfl.1	+	2	1341	c.1341C>T	c.(1339-1341)CCC>CCT	p.P447P		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	447	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CGCAGGGCCCCGACAGCGCGG	0.761												
C18orf22	79863	broad.mit.edu	37	18	77804249	77804249	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:77804249G>A	uc002lns.2	+	6	752	c.614G>A	c.(613-615)CGG>CAG	p.R205Q	C18orf22_uc010drh.2_Missense_Mutation_p.G177R|C18orf22_uc010dri.1_Intron|C18orf22_uc002lnt.2_Missense_Mutation_p.R38Q|uc002lnu.2_5'Flank	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	hypothetical protein LOC79863 precursor	205					rRNA processing	mitochondrion					0		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)		TTTGGACCCCGGGATGAAAGA	0.378												
PARD6G	84552	broad.mit.edu	37	18	77960807	77960807	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:77960807C>T	uc002lny.2	-	2	247	c.81G>A	c.(79-81)GCG>GCA	p.A27A	PARD6G_uc010xfp.1_Silent_p.A27A	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	PAR-6 gamma protein	27	OPR.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		TTCGGAATTCCGCCCCAAACT	0.453												
HCN2	610	broad.mit.edu	37	19	610372	610372	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:610372C>T	uc002lpe.2	+	5	1604	c.1551C>T	c.(1549-1551)AGC>AGT	p.S517S		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	517	Cytoplasmic (Potential).				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGAGGACAGCATCCTGGGCG	0.552												
MED16	10025	broad.mit.edu	37	19	876999	876999	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:876999G>A	uc002lqd.1	-	9	1686	c.1535C>T	c.(1534-1536)ACG>ATG	p.T512M	MED16_uc010drw.1_Missense_Mutation_p.T337M|MED16_uc002lqe.2_Missense_Mutation_p.T501M|MED16_uc002lqf.2_Missense_Mutation_p.T501M|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Missense_Mutation_p.T357M|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	512					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCTGGCGCGTGTACTCCTC	0.697												
HMHA1	23526	broad.mit.edu	37	19	1068656	1068656	+	Missense_Mutation	SNP	G	G	A	rs138476769		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:1068656G>A	uc002lqz.1	+	2	565	c.334G>A	c.(334-336)GTC>ATC	p.V112I	HMHA1_uc010xgd.1_Missense_Mutation_p.V128I|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	112					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCCGGACGTCGTCGAGGA	0.692												
ATP5D	513	broad.mit.edu	37	19	1241936	1241936	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:1241936G>A	uc002lrn.2	+	1	188	c.87G>A	c.(85-87)CCG>CCA	p.P29P	ATP5D_uc002lro.2_Silent_p.P29P	NM_001001975	NP_001001975	P30049	ATPD_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	29					mitochondrial ATP synthesis coupled proton transport|oxidative phosphorylation|respiratory electron transport chain|response to copper ion	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ccgccgccccggctgccgccT	0.328												
PCSK4	54760	broad.mit.edu	37	19	1483346	1483346	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:1483346C>T	uc002ltb.1	-	12	1570	c.1508G>A	c.(1507-1509)CGC>CAC	p.R503H	PCSK4_uc002lsz.2_5'UTR|PCSK4_uc002lta.2_Missense_Mutation_p.R315H	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	503					proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGTCTCCGCGCCGGCTGTA	0.672												
MEX3D	399664	broad.mit.edu	37	19	1556759	1556759	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:1556759C>T	uc010dsn.2	-	2	759	c.759G>A	c.(757-759)ACG>ACA	p.T253T		NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN	ring finger and KH domain containing 1	253					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTGCTGCGCGTGGCGCGGA	0.706												
BTBD2	55643	broad.mit.edu	37	19	1993130	1993130	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:1993130C>T	uc002lup.1	-	3	573	c.573G>A	c.(571-573)ATG>ATA	p.M191I	BTBD2_uc002luo.1_5'Flank	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	191						cytoplasmic mRNA processing body	protein binding			ovary(1)|skin(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATAGCGTGGTCATCACCGTCT	0.637												
MKNK2	2872	broad.mit.edu	37	19	2041092	2041092	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:2041092C>A	uc002lus.2	-	12	1302	c.1057G>T	c.(1057-1059)GCC>TCC	p.A353S	MKNK2_uc002luq.1_Missense_Mutation_p.A97S|MKNK2_uc010xgu.1_Missense_Mutation_p.A192S|MKNK2_uc010xgv.1_Missense_Mutation_p.A222S|MKNK2_uc002lur.2_Missense_Mutation_p.A353S|MKNK2_uc002lut.1_Missense_Mutation_p.A97S	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	MAP kinase-interacting serine/threonine kinase 2	353	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(1)|breast(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTGCTTGGCGTCACGGACC	0.652												
SPPL2B	56928	broad.mit.edu	37	19	2353174	2353174	+	Silent	SNP	G	G	A	rs144490639	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:2353174G>A	uc002lvs.2	+	16	1826	c.1746G>A	c.(1744-1746)CCG>CCA	p.P582P	SPPL2B_uc002lvr.2_3'UTR	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	signal peptide peptidase-like 2B isoform 2	582						Golgi membrane|integral to membrane	aspartic-type endopeptidase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCCCAGCCGTCCCCGGTAA	0.711												
DIRAS1	148252	broad.mit.edu	37	19	2717476	2717476	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:2717476C>T	uc002lwf.3	-	2	487	c.329G>A	c.(328-330)AGC>AAC	p.S110N		NM_145173	NP_660156	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	110					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCTCCACGCTGCCCTTGAT	0.642												
SLC39A3	29985	broad.mit.edu	37	19	2733400	2733400	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:2733400G>A	uc002lwg.2	-	3	548	c.294C>T	c.(292-294)ACC>ACT	p.T98T	SLC39A3_uc010xgy.1_Silent_p.T98T	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	98	Helical; (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGAAGACGGTCATGAAGA	0.632												
ZNF556	80032	broad.mit.edu	37	19	2877612	2877612	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:2877612C>T	uc002lwp.1	+	4	743	c.656C>T	c.(655-657)ACT>ATT	p.T219I	ZNF556_uc002lwq.2_Missense_Mutation_p.T218I	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	219	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTCTCTCACTGAACATGTA	0.498												
ZNF77	58492	broad.mit.edu	37	19	2933649	2933649	+	Silent	SNP	G	G	A	rs34789013	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:2933649G>A	uc002lws.3	-	4	1607	c.1476C>T	c.(1474-1476)TAC>TAT	p.Y492Y		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	zinc finger protein 77	492	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTACATTCGTAGGGTTTGA	0.498												
TLE6	79816	broad.mit.edu	37	19	2993498	2993498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:2993498G>A	uc002lwu.2	+	14	1486	c.1086G>A	c.(1084-1086)TGG>TGA	p.W362*	TLE6_uc002lwt.2_Nonsense_Mutation_p.W485*|TLE6_uc010dtg.2_Nonsense_Mutation_p.W485*|TLE6_uc002lwv.2_Nonsense_Mutation_p.W266*	NM_024760	NP_079036	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 isoform 2	362	WD 5.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGCAGTGGCTGCAAAGCA	0.617												
TJP3	27134	broad.mit.edu	37	19	3740615	3740615	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:3740615C>T	uc010xhv.1	+	13	1796	c.1796C>T	c.(1795-1797)GCG>GTG	p.A599V	TJP3_uc010xhs.1_Missense_Mutation_p.A566V|TJP3_uc010xht.1_Missense_Mutation_p.A530V|TJP3_uc010xhu.1_Missense_Mutation_p.A575V|TJP3_uc010xhw.1_Missense_Mutation_p.A585V	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	580						tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTCCTCCGCGGGCTCCAAT	0.672												
MAP2K2	5605	broad.mit.edu	37	19	4117561	4117561	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:4117561C>T	uc002lzk.2	-	2	413	c.159G>A	c.(157-159)CGG>CGA	p.R53R		NM_030662	NP_109587	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	53					activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCTTCCAGCCGCTTCTTCT	0.597									Cardiofaciocutaneous_syndrome			
CCDC94	55702	broad.mit.edu	37	19	4262085	4262085	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:4262085C>T	uc002lzv.3	+	6	715	c.682C>T	c.(682-684)CCC>TCC	p.P228S		NM_018074	NP_060544	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	228											0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		AGCCCTTCGGCCCAACCCCAC	0.632												
MPND	84954	broad.mit.edu	37	19	4357345	4357345	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:4357345C>T	uc002mae.2	+	9	1159	c.1092C>T	c.(1090-1092)GAC>GAT	p.D364D	MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Silent_p.D314D|MPND_uc002maf.2_Silent_p.D364D|MPND_uc002mah.2_Silent_p.D252D|MPND_uc002mai.2_Silent_p.D223D	NM_032868	NP_116257	Q8N594	MPND_HUMAN	MPN domain containing isoform 1	364	MPN.						peptidase activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGACATCGACGCACAGATGG	0.672												
UBXN6	80700	broad.mit.edu	37	19	4446124	4446124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:4446124C>T	uc002man.1	-	10	1218	c.1122G>A	c.(1120-1122)TGG>TGA	p.W374*	UBXN6_uc010dty.1_Nonsense_Mutation_p.W278*|UBXN6_uc002mam.1_Nonsense_Mutation_p.W321*	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	374	UBX.					microtubule organizing center|nucleus	protein binding				0						CAAAAGGCAGCCAGTCGCTCT	0.687												
HDGFRP2	84717	broad.mit.edu	37	19	4475282	4475282	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:4475282T>A	uc002mao.2	+	2	176	c.83T>A	c.(82-84)ATC>AAC	p.I28N	HDGFRP2_uc002map.2_Missense_Mutation_p.I28N|HDGFRP2_uc010dtz.1_5'Flank	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	28	PWWP.				transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						ATCGACGACATCGCGGATGGC	0.552												
PLIN4	729359	broad.mit.edu	37	19	4508874	4508874	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:4508874C>T	uc002mar.1	-	4	3566	c.3566G>A	c.(3565-3567)CGC>CAC	p.R1189H	PLIN4_uc010dub.1_Missense_Mutation_p.R213H	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	1189						lipid particle|plasma membrane					0						TGCCCGCTGGCGGAAGCTGGG	0.627												
SEMA6B	10501	broad.mit.edu	37	19	4550840	4550840	+	Silent	SNP	C	C	T	rs150994490	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:4550840C>T	uc010duc.1	-	10	1130	c.1092G>A	c.(1090-1092)CCG>CCA	p.P364P	SEMA6B_uc010dud.2_Silent_p.P364P|SEMA6B_uc010xih.1_Silent_p.P364P	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	364	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCGGCACCGGCGTCCAGA	0.657												
PTPRS	5802	broad.mit.edu	37	19	5215591	5215591	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:5215591G>A	uc002mbv.2	-	27	4346	c.4112C>T	c.(4111-4113)CCG>CTG	p.P1371L	PTPRS_uc002mbu.1_Missense_Mutation_p.P940L|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Missense_Mutation_p.P1333L|PTPRS_uc002mbx.2_Missense_Mutation_p.P928L|PTPRS_uc002mby.2_Missense_Mutation_p.P924L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1371	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGGAATTGGCGGGTGGCTAAG	0.667												
PTPRS	5802	broad.mit.edu	37	19	5231469	5231469	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:5231469C>A	uc002mbv.2	-	14	2241	c.2007G>T	c.(2005-2007)AAG>AAT	p.K669N	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Missense_Mutation_p.K656N|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	669	Extracellular (Potential).|Fibronectin type-III 4.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CGTTCACCTCCTTGGGTTCCG	0.662												
ZNRF4	148066	broad.mit.edu	37	19	5455562	5455562	+	Silent	SNP	G	G	A	rs147873454	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:5455562G>A	uc002mca.3	+	1	137	c.60G>A	c.(58-60)GCG>GCA	p.A20A		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	20						integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CAGTGGCCGCGTCACTGCCTC	0.662												
ZNRF4	148066	broad.mit.edu	37	19	5455855	5455855	+	Missense_Mutation	SNP	C	C	T	rs149951234	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:5455855C>T	uc002mca.3	+	1	430	c.353C>T	c.(352-354)GCG>GTG	p.A118V		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	118	Extracellular (Potential).					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GATCTGCCGGCGCTGTTCGGC	0.687												
PRR22	163154	broad.mit.edu	37	19	5783603	5783603	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:5783603C>T	uc002mdb.1	-	1	1008	c.649G>A	c.(649-651)GGC>AGC	p.G217S	PRR22_uc010xiv.1_Missense_Mutation_p.G219S	NM_153359	NP_699190	Q8IZ63	PRR22_HUMAN	proline rich 22 isoform 2	217	Pro-rich.										0						GGGAAGTGGCCGAGGTGACCC	0.701												
DUS3L	56931	broad.mit.edu	37	19	5785436	5785436	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:5785436G>A	uc002mdc.2	-	12	1935	c.1838C>T	c.(1837-1839)ACG>ATG	p.T613M	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Missense_Mutation_p.T371M|DUS3L_uc010duk.2_Missense_Mutation_p.T278M	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like isoform 1	613					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0						GGCCATCAGCGTCTCCAGGTA	0.706												
DUS3L	56931	broad.mit.edu	37	19	5787151	5787151	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:5787151C>T	uc002mdc.2	-	8	1407	c.1310G>A	c.(1309-1311)CGC>CAC	p.R437H	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Missense_Mutation_p.R195H|DUS3L_uc010duk.2_Missense_Mutation_p.R102H	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like isoform 1	437					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0						GACGCCTGTGCGGATCTTCAC	0.478												
FUT5	2527	broad.mit.edu	37	19	5867333	5867333	+	Missense_Mutation	SNP	G	G	A	rs139667433		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:5867333G>A	uc002mdo.3	-	2	492	c.404C>T	c.(403-405)CCG>CTG	p.P135L	FUT5_uc010duo.2_Missense_Mutation_p.P135L	NM_002034	NP_002025	Q11128	FUT5_HUMAN	fucosyltransferase 5	135	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity				0						GGTGGGGGGCGGGAGGTTGGC	0.627												
RANBP3	8498	broad.mit.edu	37	19	5917974	5917974	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:5917974T>C	uc002mdw.2	-	16	1718	c.1491A>G	c.(1489-1491)ACA>ACG	p.T497T	RANBP3_uc002mdv.2_Silent_p.T216T|RANBP3_uc002mdx.2_Silent_p.T492T|RANBP3_uc002mdy.2_Silent_p.T429T|RANBP3_uc002mdz.2_Silent_p.T424T|RANBP3_uc010duq.2_Silent_p.T402T|RANBP3_uc002mea.2_Silent_p.T364T|RANBP3_uc010xix.1_Silent_p.T369T	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	497	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						ACAACTGACCTGTGTCCTTGG	0.662												
MLLT1	4298	broad.mit.edu	37	19	6222213	6222213	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:6222213G>A	uc002mek.2	-	6	1193	c.1029C>T	c.(1027-1029)GCC>GCT	p.A343A		NM_005934	NP_005925	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	343					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			skin(1)	1						GCTCACTCTCGGCCTTCACCT	0.647			T	MLL	AL							
MLLT1	4298	broad.mit.edu	37	19	6270614	6270614	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:6270614C>T	uc002mek.2	-	2	333	c.169G>A	c.(169-171)GAC>AAC	p.D57N		NM_005934	NP_005925	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	57	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			skin(1)	1						GGGAAGCTGTCGTGCAGCCAG	0.627			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GTF2F1	2962	broad.mit.edu	37	19	6380696	6380696	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:6380696G>A	uc002meq.2	-	12	1522	c.1237C>T	c.(1237-1239)CGG>TGG	p.R413W	GTF2F1_uc010xjb.1_Missense_Mutation_p.R234W|GTF2F1_uc010xjc.1_Missense_Mutation_p.R328W	NM_002096	NP_002087	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1,	413					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding				0						TCGCTCACCCGCTTCCCTGTG	0.652												
DENND1C	79958	broad.mit.edu	37	19	6468317	6468317	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:6468317G>A	uc002mfe.2	-	22	1811	c.1719C>T	c.(1717-1719)AGC>AGT	p.S573S	DENND1C_uc002mfb.2_Silent_p.S123S|DENND1C_uc002mfc.2_Silent_p.S123S|DENND1C_uc002mfd.2_Silent_p.S123S|DENND1C_uc010xje.1_Silent_p.S529S	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	573						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						GGCTGCCTGCGCTCTTGGCTC	0.582												
TUBB4	10382	broad.mit.edu	37	19	6495185	6495185	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:6495185T>A	uc002mfg.1	-	4	1432	c.1325A>T	c.(1324-1326)GAG>GTG	p.E442V	TUBB4_uc002mff.1_Missense_Mutation_p.E370V|MIR220B_hsa-mir-220b|MI0005529_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	442					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		CTAGGCCACCTCCTCCTCCGC	0.627												
TUBB4	10382	broad.mit.edu	37	19	6496124	6496124	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:6496124C>T	uc002mfg.1	-	4	493	c.386G>A	c.(385-387)TGC>TAC	p.C129Y	TUBB4_uc002mff.1_Missense_Mutation_p.C57Y	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	129					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		GCCCTGAAGGCAGTCGCAGCT	0.662												
GPR108	56927	broad.mit.edu	37	19	6732167	6732167	+	Splice_Site	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:6732167C>A	uc002mfp.2	-	13	1172	c.1126_splice	c.e13-1	p.V376_splice	GPR108_uc010duv.2_Splice_Site|GPR108_uc002mfn.2_Splice_Site_p.V47_splice|GPR108_uc002mfo.3_Splice_Site_p.V134_splice|GPR108_uc010duw.2_Splice_Site	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108 isoform 1							integral to membrane					0						TGGCCAGGACCTGCGCAGGCG	0.667												
ADAMTS10	81794	broad.mit.edu	37	19	8661959	8661959	+	Nonsense_Mutation	SNP	G	G	A	rs121434359		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:8661959G>A	uc002mkj.1	-	8	1226	c.952C>T	c.(952-954)CAG>TAG	p.Q318*	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	318	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						ATGGATTTCTGCCACTTACAG	0.582												
MUC16	94025	broad.mit.edu	37	19	8999048	8999048	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:8999048C>T	uc002mkp.2	-	57	41000	c.40796G>A	c.(40795-40797)CGG>CAG	p.R13599Q	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R416Q|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CACAGAGCTCCGCTGTGTGAA	0.552												
MUC16	94025	broad.mit.edu	37	19	9049229	9049229	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:9049229G>A	uc002mkp.2	-	5	32606	c.32402C>T	c.(32401-32403)GCG>GTG	p.A10801V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10803	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGTCTTTGCCGCCAAACTGGT	0.502												
MUC16	94025	broad.mit.edu	37	19	9075091	9075091	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:9075091T>A	uc002mkp.2	-	3	12559	c.12355A>T	c.(12355-12357)ACA>TCA	p.T4119S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4121	Thr-rich.|Extracellular (Potential).|Ser-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGAGTCCCTGTCCAGGAGGCT	0.502												
ZNF317	57693	broad.mit.edu	37	19	9272105	9272105	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:9272105A>G	uc002mku.2	+	7	2059	c.1784A>G	c.(1783-1785)CAG>CGG	p.Q595R	ZNF317_uc002mkv.2_Missense_Mutation_p.Q454R|ZNF317_uc002mkw.2_Missense_Mutation_p.Q563R|ZNF317_uc002mkx.2_Missense_Mutation_p.Q510R|ZNF317_uc002mky.2_Missense_Mutation_p.Q478R	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAAAGGCTCCAGTGAGCGCGC	0.562												
PIN1	5300	broad.mit.edu	37	19	9958805	9958805	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:9958805C>T	uc002mml.1	+	3	393	c.371C>T	c.(370-372)GCC>GTC	p.A124V	PIN1_uc002mmk.1_Missense_Mutation_p.A124V|PIN1_uc002mmm.1_Missense_Mutation_p.A124V|PIN1_uc002mmn.1_RNA	NM_006221	NP_006212	Q13526	PIN1_HUMAN	protein (peptidyl-prolyl cis/trans isomerase)	124	PpiC.				cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding			skin(1)	1						GACCTGGGTGCCTTCAGCAGA	0.622											OREG0025226	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PPAN-P2RY11	692312	broad.mit.edu	37	19	10225287	10225287	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:10225287G>A	uc002mna.2	+	13	2258	c.2258G>A	c.(2257-2259)CGA>CAA	p.R753Q	PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Missense_Mutation_p.R333Q	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	Error:Variant_position_missing_in_Q9NQ55_after_alignment					RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TGCTGCTGCCGACACTGCCCC	0.657												
DNMT1	1786	broad.mit.edu	37	19	10265002	10265002	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:10265002G>A	uc002mng.2	-	21	2118	c.1938C>T	c.(1936-1938)AAC>AAT	p.N646N	DNMT1_uc010xlc.1_Silent_p.N662N|DNMT1_uc002mnh.2_Silent_p.N541N|DNMT1_uc010xld.1_Silent_p.N646N	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	646	CXXC-type.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GCTTAAAGGCGTTCTCCTTGT	0.567												
MRPL4	51073	broad.mit.edu	37	19	10367427	10367427	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:10367427G>A	uc002mnm.2	+	6	525	c.371G>A	c.(370-372)GGC>GAC	p.G124D	MRPL4_uc002mnn.2_Missense_Mutation_p.G124D|MRPL4_uc002mno.2_Missense_Mutation_p.G124D	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4 isoform a	124					translation	mitochondrion|ribosome	structural constituent of ribosome			ovary(1)	1		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		CGGGGCGGTGGCCGGAAGCCT	0.692												
SLC44A2	57153	broad.mit.edu	37	19	10747092	10747092	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:10747092C>T	uc002mpf.2	+	15	1466	c.1327C>T	c.(1327-1329)CTG>TTG	p.L443L	SLC44A2_uc002mpe.3_Silent_p.L441L|SLC44A2_uc002mpg.1_Silent_p.L163L|SLC44A2_uc002mph.2_5'UTR	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	solute carrier family 44, member 2 isoform 1	443	Extracellular (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			ovary(1)	1			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCGGGCCCTGCTGGGCCTGCA	0.627												
SMARCA4	6597	broad.mit.edu	37	19	11096942	11096942	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11096942A>T	uc002mqf.3	+	4	717	c.433A>T	c.(433-435)ATG>TTG	p.M145L	SMARCA4_uc010dxp.2_Missense_Mutation_p.M145L|SMARCA4_uc010dxo.2_Missense_Mutation_p.M145L|SMARCA4_uc002mqg.1_Missense_Mutation_p.M145L|SMARCA4_uc010dxq.2_Missense_Mutation_p.M145L|SMARCA4_uc010dxr.2_Missense_Mutation_p.M145L|SMARCA4_uc002mqj.3_Missense_Mutation_p.M145L|SMARCA4_uc010dxs.2_Missense_Mutation_p.M145L|SMARCA4_uc002mqe.2_Missense_Mutation_p.M145L	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	145	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGGGCCCCAGATGTCTTCCGG	0.652			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
SMARCA4	6597	broad.mit.edu	37	19	11100064	11100064	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11100064G>A	uc002mqf.3	+	7	1474	c.1190G>A	c.(1189-1191)CGA>CAA	p.R397Q	SMARCA4_uc010dxp.2_Missense_Mutation_p.R397Q|SMARCA4_uc010dxo.2_Missense_Mutation_p.R397Q|SMARCA4_uc002mqg.1_Missense_Mutation_p.R397Q|SMARCA4_uc010dxq.2_Missense_Mutation_p.R397Q|SMARCA4_uc010dxr.2_Missense_Mutation_p.R397Q|SMARCA4_uc002mqj.3_Missense_Mutation_p.R397Q|SMARCA4_uc010dxs.2_Missense_Mutation_p.R397Q|SMARCA4_uc002mqe.2_Missense_Mutation_p.R397Q	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	397					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGGGATTTGCGAACCAAAGCG	0.597			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
SMARCA4	6597	broad.mit.edu	37	19	11144499	11144499	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11144499G>A	uc002mqf.3	+	27	4115	c.3831G>A	c.(3829-3831)CCG>CCA	p.P1277P	SMARCA4_uc010dxp.2_Silent_p.P1277P|SMARCA4_uc010dxo.2_Silent_p.P1277P|SMARCA4_uc010dxq.2_Intron|SMARCA4_uc010dxr.2_Intron|SMARCA4_uc002mqj.3_Intron|SMARCA4_uc010dxs.2_Intron|SMARCA4_uc010dxt.1_Intron|SMARCA4_uc002mqh.3_Intron|SMARCA4_uc002mqi.1_Intron	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1277					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ctgcccctccgccagcgggcg	0			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
LDLR	3949	broad.mit.edu	37	19	11218190	11218190	+	Missense_Mutation	SNP	G	G	A	rs72658858		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11218190G>A	uc002mqk.3	+	6	1108	c.940G>A	c.(940-942)GGG>AGG	p.G314R	LDLR_uc010xlk.1_Missense_Mutation_p.G314R|LDLR_uc010xll.1_Missense_Mutation_p.G273R|LDLR_uc010xlm.1_Missense_Mutation_p.G167R|LDLR_uc010xln.1_Missense_Mutation_p.G187R|LDLR_uc010xlo.1_Missense_Mutation_p.G146R	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	314	Extracellular (Potential).|EGF-like 1.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CAAAGAGTGCGGTGAGTCTCG	0.562												
LDLR	3949	broad.mit.edu	37	19	11241983	11241983	+	Silent	SNP	C	C	T	rs139757711		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11241983C>T	uc002mqk.3	+	18	2742	c.2574C>T	c.(2572-2574)GAC>GAT	p.D858D	LDLR_uc010xlk.1_Silent_p.D856D|LDLR_uc010xll.1_Silent_p.D817D|LDLR_uc010xlm.1_Silent_p.D711D|LDLR_uc010xln.1_Silent_p.D680D|LDLR_uc010xlo.1_Silent_p.D690D|LDLR_uc010dxu.2_Missense_Mutation_p.T25M	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	858	Required for MYLIP-triggered down- regulation of LDLR.|Cytoplasmic (Potential).				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TGGAGGATGACGTGGCGTGAA	0.527											OREG0025249	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KANK2	25959	broad.mit.edu	37	19	11280723	11280723	+	Splice_Site	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11280723C>T	uc010dxv.2	-	13	2970	c.2412_splice	c.e13+1	p.R804_splice	KANK2_uc002mqm.2_Splice_Site_p.R812_splice|KANK2_uc002mqo.3_Splice_Site_p.R804_splice|KANK2_uc002mqp.1_Splice_Site_p.R613_splice	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1												0						TGGAGACTCACGCGATCTGTG	0.637												
RGL3	57139	broad.mit.edu	37	19	11510959	11510959	+	Missense_Mutation	SNP	C	C	T	rs117608091	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11510959C>T	uc002mrp.2	-	14	1563	c.1499G>A	c.(1498-1500)CGG>CAG	p.R500Q	RGL3_uc002mrn.2_Missense_Mutation_p.R264Q|RGL3_uc002mrm.2_Missense_Mutation_p.R264Q|RGL3_uc002mro.2_Missense_Mutation_p.R500Q	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	500	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						CTCAATGACCCGGGAGAGCCG	0.612												
PRKCSH	5589	broad.mit.edu	37	19	11548910	11548910	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11548910G>A	uc002mrt.2	+	5	651	c.315G>A	c.(313-315)GAG>GAA	p.E105E	CCDC151_uc002mrs.2_5'Flank|CCDC151_uc010dxz.2_5'Flank|PRKCSH_uc002mru.2_Silent_p.E105E|PRKCSH_uc010xlz.1_Silent_p.E105E|PRKCSH_uc010dya.2_Missense_Mutation_p.S74N|PRKCSH_uc002mrv.1_Silent_p.E105E|PRKCSH_uc010dyb.2_Silent_p.E105E	NM_002743	NP_002734	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H isoform 1	105					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding				0						GAACAGACGAGTACAACAGCG	0.582												
ZNF653	115950	broad.mit.edu	37	19	11597605	11597605	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11597605G>A	uc002mrz.1	-	6	1487	c.1434C>T	c.(1432-1434)TAC>TAT	p.Y478Y		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	zinc finger protein 653	478	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGAGGGCCACGTAGACTTGGC	0.672												
ECSIT	51295	broad.mit.edu	37	19	11618361	11618361	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11618361G>A	uc002msb.2	-	7	1096	c.962C>T	c.(961-963)CCG>CTG	p.P321L	ZNF653_uc002mrz.1_5'Flank|ECSIT_uc002msa.1_RNA|ECSIT_uc010dyc.1_Missense_Mutation_p.R281W|ECSIT_uc010dyd.2_Silent_p.A271A|ECSIT_uc010xma.1_Missense_Mutation_p.P107L	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	evolutionarily conserved signaling intermediate	321					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			ovary(1)	1						CCACTCCTCCGGCGTCTCTTC	0.582												
CNN1	1264	broad.mit.edu	37	19	11660379	11660379	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:11660379G>A	uc002msc.1	+	7	827	c.663G>A	c.(661-663)GCG>GCA	p.A221A	CNN1_uc010xmb.1_Silent_p.A171A|CNN1_uc010xmc.1_Silent_p.A171A	NM_001299	NP_001290	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	221	Calponin-like 2.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding				0						GCATGACTGCGCCAGGGACCA	0.692												
ZNF433	163059	broad.mit.edu	37	19	12128716	12128716	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:12128716A>G	uc002msy.1	-	3	346	c.175T>C	c.(175-177)TAC>CAC	p.Y59H	uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.Y24H	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGATTTTCGTACTCTACATAT	0.299												
MAN2B1	4125	broad.mit.edu	37	19	12758380	12758380	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:12758380C>A	uc002mub.2	-	22	2773	c.2697G>T	c.(2695-2697)TCG>TCT	p.S899S	MAN2B1_uc010dyv.1_Silent_p.S898S	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	899					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						GCAGGTGCACCGAGGGCGGCA	0.692												
MAN2B1	4125	broad.mit.edu	37	19	12774228	12774228	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:12774228A>G	uc002mub.2	-	6	888	c.812T>C	c.(811-813)GTG>GCG	p.V271A	MAN2B1_uc010dyv.1_Missense_Mutation_p.V271A	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	271					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						GACACACAGCACATCCCAGCA	0.587												
C19orf56	51398	broad.mit.edu	37	19	12779388	12779388	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:12779388C>T	uc002mud.2	-	3	448	c.200G>A	c.(199-201)AGC>AAC	p.S67N	MAN2B1_uc002mub.2_5'Flank|MAN2B1_uc010dyv.1_5'Flank|WDR83_uc002mue.3_5'UTR|WDR83_uc002muc.2_RNA|WDR83_uc010dyw.2_5'Flank	NM_016145	NP_057229	Q9Y284	CS056_HUMAN	hypothetical protein LOC51398	67						integral to membrane					0						GTTGGCAAAGCTGATGAAGGA	0.522												
HOOK2	29911	broad.mit.edu	37	19	12882020	12882020	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:12882020C>T	uc002muy.2	-	9	885	c.714G>A	c.(712-714)CTG>CTA	p.L238L	HOOK2_uc002muz.2_Silent_p.L238L	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	238	Sufficient for interaction with microtubules.|Potential.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)|skin(1)	3						GCAGCAGCAGCAGCTTCTTGG	0.657												
RNASEH2A	10535	broad.mit.edu	37	19	12918244	12918244	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:12918244A>G	uc002mvg.1	+	4	395	c.335A>G	c.(334-336)AAC>AGC	p.N112S	RNASEH2A_uc002mvf.1_Missense_Mutation_p.N30S	NM_006397	NP_006388	O75792	RNH2A_HUMAN	ribonuclease H2, large subunit	112				N->A: Reduced enzyme activity.	DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(2)|central_nervous_system(1)	3						GTCAAATACAACCTGAACTCC	0.542												
TRMT1	55621	broad.mit.edu	37	19	13223557	13223557	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:13223557C>T	uc002mwj.2	-	6	1082	c.832G>A	c.(832-834)GGG>AGG	p.G278R	TRMT1_uc002mwk.2_Missense_Mutation_p.G278R|TRMT1_uc002mwl.3_Missense_Mutation_p.G278R|TRMT1_uc010xmz.1_Missense_Mutation_p.G64R	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	278							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GCCATGGCCCCGTACTTGCTG	0.657												
CACNA1A	773	broad.mit.edu	37	19	13363878	13363878	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:13363878C>T	uc010dze.2	-	30	5032	c.4796G>A	c.(4795-4797)CGG>CAG	p.R1599Q	CACNA1A_uc010xnd.1_Missense_Mutation_p.R304Q|CACNA1A_uc002mwx.3_Missense_Mutation_p.R304Q|CACNA1A_uc010dzc.2_Missense_Mutation_p.R1124Q|CACNA1A_uc002mwy.3_Missense_Mutation_p.R1598Q|CACNA1A_uc010xne.1_Missense_Mutation_p.R1127Q|CACNA1A_uc002mwv.3_Missense_Mutation_p.R115Q	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1599	Helical; Name=S2 of repeat IV; (Potential).|IV.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTTGAACACCCGCAGGGCATT	0.527												
CACNA1A	773	broad.mit.edu	37	19	13418941	13418941	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:13418941C>T	uc010dze.2	-	14	2145	c.1909G>A	c.(1909-1911)GGC>AGC	p.G637S	CACNA1A_uc010dzc.2_Missense_Mutation_p.G162S|CACNA1A_uc002mwy.3_Missense_Mutation_p.G636S|CACNA1A_uc010xne.1_Missense_Mutation_p.G162S	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	637	Extracellular (Potential).|II.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TACTGGCCGCCGAAGAGTTGC	0.547												
CCDC130	81576	broad.mit.edu	37	19	13869968	13869968	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:13869968G>C	uc002mxb.1	+	9	958	c.455G>C	c.(454-456)GGC>GCC	p.G152A	CCDC130_uc010xnf.1_3'UTR|CCDC130_uc002mxc.1_Missense_Mutation_p.G152A|CCDC130_uc002mxd.1_Missense_Mutation_p.G7A|CCDC130_uc010dzf.1_Missense_Mutation_p.G46A	NM_030818	NP_110445	P13994	CC130_HUMAN	coiled-coil domain containing 130	152					response to virus		protein binding				0			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CTGGAGCATGGCGAGGCCGAC	0.637												
LPHN1	22859	broad.mit.edu	37	19	14281569	14281569	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:14281569C>T	uc010xnn.1	-	4	615	c.319G>A	c.(319-321)GGC>AGC	p.G107S	LPHN1_uc010xno.1_Missense_Mutation_p.G107S|uc002myf.2_RNA|uc010dzk.1_5'Flank	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	107	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						GCATCCGAGCCGGCGACCACC	0.587												
SLC1A6	6511	broad.mit.edu	37	19	15072900	15072900	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:15072900A>G	uc002naa.1	-	5	857	c.849T>C	c.(847-849)GGT>GGC	p.G283G	SLC1A6_uc010dzu.1_Silent_p.G283G|SLC1A6_uc010xod.1_Silent_p.G219G|SLC1A6_uc002nab.2_Silent_p.G283G|SLC1A6_uc002nac.2_Silent_p.G283G	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	283	Helical; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	GTTTCATGCCACCAATGACCA	0.562												
CASP14	23581	broad.mit.edu	37	19	15166256	15166256	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:15166256G>A	uc010dzv.1	+	6	844	c.536G>A	c.(535-537)CGA>CAA	p.R179Q	CASP14_uc002naf.2_Missense_Mutation_p.R179Q	NM_012114	NP_036246	P31944	CASPE_HUMAN	caspase 14 precursor	179					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			skin(2)|ovary(1)|lung(1)	4						ATCGCCTACCGACATGATCAG	0.532												
ILVBL	10994	broad.mit.edu	37	19	15227029	15227029	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:15227029C>T	uc002nam.2	-	12	1526	c.1405G>A	c.(1405-1407)GGG>AGG	p.G469R	ILVBL_uc010xof.1_Missense_Mutation_p.G110R|ILVBL_uc010dzw.2_Missense_Mutation_p.G362R	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	469						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			ovary(2)	2						ACGAAGTCCCCGCCATCCACC	0.662												
NOTCH3	4854	broad.mit.edu	37	19	15311612	15311612	+	Silent	SNP	C	C	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:15311612C>G	uc002nan.2	-	1	181	c.105G>C	c.(103-105)GGG>GGC	p.G35G	NOTCH3_uc002nao.1_Silent_p.G35G	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	35					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGCCCCCGGCCCCGCTAGCA	0.587												
BRD4	23476	broad.mit.edu	37	19	15349943	15349943	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:15349943G>A	uc002nar.2	-	18	3931	c.3709C>T	c.(3709-3711)CGT>TGT	p.R1237C		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	1237					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCCTTCTCACGCTCCTCTTTC	0.662			T	NUT|C15orf55	lethal midline carcinoma of young people							
WIZ	58525	broad.mit.edu	37	19	15535132	15535132	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:15535132T>C	uc002nbc.2	-	7	2632	c.2609A>G	c.(2608-2610)GAC>GGC	p.D870G	WIZ_uc002nba.3_Missense_Mutation_p.D737G|WIZ_uc002nbb.3_Missense_Mutation_p.D696G	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1553						nucleus	zinc ion binding				0						GTCATTGGTGTCCTCGCCTCC	0.667												
WIZ	58525	broad.mit.edu	37	19	15538114	15538114	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:15538114C>T	uc002nbc.2	-	4	1305	c.1282G>A	c.(1282-1284)GCC>ACC	p.A428T	WIZ_uc002nba.3_Missense_Mutation_p.A295T|WIZ_uc002nbb.3_Missense_Mutation_p.A254T	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1111	Pro-rich.					nucleus	zinc ion binding				0						ATCATCTTGGCCAGGGCTTTT	0.652												
CYP4F11	57834	broad.mit.edu	37	19	16024702	16024702	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:16024702G>A	uc002nbu.2	-	13	1451	c.1415C>T	c.(1414-1416)GCG>GTG	p.A472V	CYP4F11_uc010eab.1_Silent_p.G450G|CYP4F11_uc002nbt.2_Missense_Mutation_p.A472V	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	472					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						CATGGCGAACGCCTGCCCGAT	0.622												
EPS15L1	58513	broad.mit.edu	37	19	16504805	16504805	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:16504805C>T	uc002ndz.1	-	18	1929	c.1923G>A	c.(1921-1923)CCG>CCA	p.P641P	EPS15L1_uc002ndx.2_Silent_p.P641P|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.P531P|EPS15L1_uc010xpf.1_Silent_p.P544P|EPS15L1_uc002nea.1_Silent_p.P641P|EPS15L1_uc010eah.1_Silent_p.P643P	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	641	15 X 3 AA repeats of D-P-F.|2.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5						CATTCTGGAACGGGTCGCCTG	0.542												
C19orf44	84167	broad.mit.edu	37	19	16620648	16620648	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:16620648C>T	uc002neh.1	+	5	1561	c.1488C>T	c.(1486-1488)GAC>GAT	p.D496D	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Silent_p.D496D|C19orf44_uc002neg.2_Silent_p.D496D|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	496											0						GAACACTGGACGCTTTGTCTG	0.498												
CHERP	10523	broad.mit.edu	37	19	16646277	16646277	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:16646277G>A	uc002nei.1	-	3	444	c.370C>T	c.(370-372)CTG>TTG	p.L124L	MED26_uc002nee.2_Intron|CHERP_uc002nej.2_Silent_p.L92L	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	124					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						CTGAGCGCCAGCAAGTGCTGC	0.662												
NWD1	284434	broad.mit.edu	37	19	16860883	16860883	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:16860883A>T	uc002neu.3	+	6	1852	c.1430A>T	c.(1429-1431)GAC>GTC	p.D477V	NWD1_uc002net.3_Missense_Mutation_p.D342V|NWD1_uc002nev.3_Missense_Mutation_p.D271V			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	477	NACHT.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						GGGGTTTTGGACACCTTGCAG	0.642												
MYO9B	4650	broad.mit.edu	37	19	17311596	17311596	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:17311596C>T	uc010eak.2	+	26	4673	c.4521C>T	c.(4519-4521)AAC>AAT	p.N1507N	MYO9B_uc002nfi.2_Silent_p.N1507N|MYO9B_uc002nfj.1_Silent_p.N1507N|MYO9B_uc002nfl.1_Silent_p.N56N	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1507	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						AGATCACCAACGCCAATGAGC	0.567												
MAP1S	55201	broad.mit.edu	37	19	17836977	17836977	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:17836977A>G	uc002nhe.1	+	5	793	c.784A>G	c.(784-786)ACT>GCT	p.T262A	MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Missense_Mutation_p.T262A|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.T236A	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	262	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						CAATGGCTTCACTGTGCTGGT	0.672												
ARRDC2	27106	broad.mit.edu	37	19	18119242	18119242	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:18119242C>T	uc002nhv.2	+	1	266	c.123C>T	c.(121-123)GCC>GCT	p.A41A	ARRDC2_uc002nhu.2_Intron	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2 isoform 1	41										pancreas(1)	1						TGTCAAGCGCCGCGCGTGTGG	0.751												
JUND	3727	broad.mit.edu	37	19	18391291	18391291	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:18391291C>T	uc002nip.2	-	1	1142	c.1004G>A	c.(1003-1005)GGC>GAC	p.G335D	hsa-mir-3188|MI0014232_5'Flank	NM_005354	NP_005345	P17535	JUND_HUMAN	jun D proto-oncogene	335					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0						CAGCTGGCAGCCGCTGTTGAC	0.716												
FKBP8	23770	broad.mit.edu	37	19	18649226	18649226	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:18649226G>A	uc002njk.1	-	5	682	c.569C>T	c.(568-570)CCG>CTG	p.P190L	FKBP8_uc002nji.1_Missense_Mutation_p.P28L|FKBP8_uc010xqi.1_Missense_Mutation_p.P219L|FKBP8_uc002njj.1_Missense_Mutation_p.P191L|FKBP8_uc002njl.1_Missense_Mutation_p.P191L|FKBP8_uc002njm.1_Missense_Mutation_p.P190L|FKBP8_uc010ebr.1_Missense_Mutation_p.P29L|FKBP8_uc002njn.2_RNA	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	FK506-binding protein 8	190	PPIase FKBP-type.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			ovary(1)	1						GGCCGCGTGCGGGGGGATGTA	0.682												
FKBP8	23770	broad.mit.edu	37	19	18652683	18652683	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:18652683G>A	uc002njk.1	-	2	211	c.98C>T	c.(97-99)GCA>GTA	p.A33V	FKBP8_uc002nji.1_5'Flank|FKBP8_uc010xqi.1_Missense_Mutation_p.A62V|FKBP8_uc002njj.1_Missense_Mutation_p.A33V|FKBP8_uc002njl.1_Missense_Mutation_p.A33V|FKBP8_uc002njm.1_Missense_Mutation_p.A33V|FKBP8_uc010ebr.1_5'UTR|FKBP8_uc002njn.2_RNA	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	FK506-binding protein 8	33	Glu-rich.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			ovary(1)	1						ctcACCCTCTGCATCCTCAAC	0.542												
GDF1	2657	broad.mit.edu	37	19	18990153	18990153	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:18990153G>A	uc002nki.1	-	5	869	c.797C>T	c.(796-798)GCC>GTC	p.A266V	LASS1_uc002nkj.2_Missense_Mutation_p.A266V|LASS1_uc010ebx.2_Missense_Mutation_p.A168V	NM_021267	NP_067090	P27539	GDF1_HUMAN	LAG1 homolog, ceramide synthase 1 isoform 1	Error:Variant_position_missing_in_P27539_after_alignment					growth	extracellular space	cytokine activity|growth factor activity				0						GTGACTGGTGGCATACAGGAC	0.562												
HOMER3	9454	broad.mit.edu	37	19	19042329	19042329	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:19042329T>C	uc002nku.2	-	7	1449	c.796A>G	c.(796-798)ACC>GCC	p.T266A	HOMER3_uc002nko.1_RNA|HOMER3_uc002nkp.1_RNA|HOMER3_uc010eby.2_Missense_Mutation_p.T230A|HOMER3_uc010ebz.2_Missense_Mutation_p.T266A|HOMER3_uc002nkw.2_Missense_Mutation_p.T266A|HOMER3_uc002nkv.2_Missense_Mutation_p.T266A	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Homer, neuronal immediate early gene, 3 isoform	266	Potential.				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding				0			Epithelial(12;0.0107)			TGGTCCTTGGTTTGCACCAGA	0.637												
CILP2	148113	broad.mit.edu	37	19	19655251	19655251	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:19655251G>A	uc002nmv.3	+	8	1982	c.1897G>A	c.(1897-1899)GAG>AAG	p.E633K	CILP2_uc002nmw.3_Missense_Mutation_p.E639K	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	633						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						CAGCGACGGCGAGCTGGCTCC	0.736												
PBX4	80714	broad.mit.edu	37	19	19680322	19680322	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:19680322T>C	uc002nmy.2	-	5	705	c.704A>G	c.(703-705)AAC>AGC	p.N235S	PBX4_uc010xqz.1_RNA|PBX4_uc010xra.1_Missense_Mutation_p.N70S	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	235	Homeobox; TALE-type.						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						GGGGTAAGGGTTGTTCAGATG	0.572												
LPAR2	9170	broad.mit.edu	37	19	19737709	19737709	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:19737709G>A	uc002nnb.3	-	2	524	c.385C>T	c.(385-387)CGG>TGG	p.R129W	LPAR2_uc002nna.3_Missense_Mutation_p.R129W|LPAR2_uc002nnc.3_Missense_Mutation_p.R129W	NM_004720	NP_004711	Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	129	Cytoplasmic (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			ovary(1)|breast(1)	2						CTGCGGTGCCGCTCCACGGCG	0.687												
GMIP	51291	broad.mit.edu	37	19	19748194	19748194	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:19748194C>T	uc002nnd.2	-	11	1221	c.1104G>A	c.(1102-1104)GAG>GAA	p.E368E	GMIP_uc010xrb.1_Silent_p.E368E|GMIP_uc010xrc.1_Silent_p.E368E	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	368	Pro-rich.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						AGGGAAGGAACTCCTGGAAGG	0.493												
ATP13A1	57130	broad.mit.edu	37	19	19766239	19766239	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:19766239G>A	uc002nnh.3	-	11	1448	c.1420C>T	c.(1420-1422)CGC>TGC	p.R474C	ATP13A1_uc002nnf.3_5'UTR|ATP13A1_uc002nng.2_Missense_Mutation_p.R356C	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	474	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						AGCTTGTAGCGGTTCCGGCTG	0.652												
ZNF708	7562	broad.mit.edu	37	19	21476766	21476766	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:21476766T>C	uc002npq.1	-	4	1200	c.1002A>G	c.(1000-1002)AAA>AAG	p.K334K	ZNF708_uc002npr.1_Silent_p.K270K|ZNF708_uc010ecs.1_Silent_p.K270K	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6						ATTTGTAGGGTTTCTCACCAG	0.373												
ZNF493	284443	broad.mit.edu	37	19	21606876	21606876	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:21606876G>A	uc002npx.2	+	2	1311	c.1031G>A	c.(1030-1032)CGA>CAA	p.R344Q	ZNF493_uc002npw.2_Missense_Mutation_p.R472Q|ZNF493_uc002npy.2_Missense_Mutation_p.R344Q	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	344	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GCTTTTAAACGATCTTCAACC	0.333												
ZNF100	163227	broad.mit.edu	37	19	21927839	21927839	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:21927839C>T	uc002nqi.2	-	3	326	c.127G>A	c.(127-129)GAA>AAA	p.E43K	ZNF100_uc002nqh.2_5'UTR	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGAGAGAATTCTATGGCCACA	0.448												
ZNF257	113835	broad.mit.edu	37	19	22271242	22271242	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:22271242A>G	uc010ecx.2	+	4	859	c.690A>G	c.(688-690)AAA>AAG	p.K230K	ZNF257_uc010ecy.2_Silent_p.K198K	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	230	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				AACCCTACAAATGTGAAGAGT	0.413												
ZNF536	9745	broad.mit.edu	37	19	30935266	30935266	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:30935266A>G	uc002nsu.1	+	2	935	c.797A>G	c.(796-798)GAC>GGC	p.D266G	ZNF536_uc010edd.1_Missense_Mutation_p.D266G	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GTGCAGGAGGACGCGGTGGCC	0.706												
ZNF536	9745	broad.mit.edu	37	19	30936402	30936402	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:30936402C>T	uc002nsu.1	+	2	2071	c.1933C>T	c.(1933-1935)CAG>TAG	p.Q645*	ZNF536_uc010edd.1_Nonsense_Mutation_p.Q645*	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	645	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CACTTACCACCAGGTGGTCGT	0.652												
ZNF536	9745	broad.mit.edu	37	19	31039824	31039824	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:31039824G>A	uc002nsu.1	+	4	3436	c.3298G>A	c.(3298-3300)GTG>ATG	p.V1100M	ZNF536_uc010edd.1_Missense_Mutation_p.V1100M	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GACCGGCCACGTGGACCCTGC	0.537												
WDR88	126248	broad.mit.edu	37	19	33623225	33623225	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:33623225G>A	uc002nui.2	+	1	228	c.150G>A	c.(148-150)CCG>CCA	p.P50P		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	50										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					TGTCGATCCCGCACACGCACC	0.652												
KCTD15	79047	broad.mit.edu	37	19	34292175	34292175	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:34292175C>A	uc002nuy.3	+	4	438	c.170C>A	c.(169-171)CCT>CAT	p.P57H	KCTD15_uc002nuv.2_Missense_Mutation_p.P57H|KCTD15_uc002nuw.3_Missense_Mutation_p.P57H|KCTD15_uc010xrt.1_Missense_Mutation_p.P57H|KCTD15_uc002nux.3_Missense_Mutation_p.P57H	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	57	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)					TCCAATGCACCTGTGCACATC	0.617												
WTIP	126374	broad.mit.edu	37	19	34984489	34984489	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:34984489C>T	uc002nvm.2	+	5	993	c.993C>T	c.(991-993)GAC>GAT	p.D331D		NM_001080436	NP_001073905			Wilms tumor 1 interacting protein												0	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCACCGTGGACGTGGAGAACA	0.632												
SCN1B	6324	broad.mit.edu	37	19	35523454	35523454	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:35523454C>T	uc002nxp.2	+	2	254	c.63C>T	c.(61-63)TGC>TGT	p.C21C	SCN1B_uc002nxo.1_Silent_p.C21C|SCN1B_uc010xsg.1_Silent_p.C21C	NM_001037	NP_001028	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta	21	Extracellular (Potential).				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCGGGGGCTGCGTGGAGGTGG	0.597												
LGI4	163175	broad.mit.edu	37	19	35616218	35616218	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:35616218G>A	uc002nxx.2	-	9	2087	c.1493C>T	c.(1492-1494)GCC>GTC	p.A498V	LGI4_uc002nxy.1_Missense_Mutation_p.A326V|LGI4_uc002nxz.1_3'UTR	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	498						extracellular region				pancreas(1)	1	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGCCACCAGGGCCGGAGGCCC	0.642												
FAM187B	148109	broad.mit.edu	37	19	35715961	35715961	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:35715961C>T	uc002nyk.1	-	2	922	c.877G>A	c.(877-879)GTG>ATG	p.V293M		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	293	Extracellular (Potential).					integral to membrane				ovary(2)	2						AACTGGGCCACGAGCTCCTGC	0.662												
LSR	51599	broad.mit.edu	37	19	35758063	35758063	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:35758063C>A	uc002nyl.2	+	9	1563	c.1340C>A	c.(1339-1341)TCC>TAC	p.S447Y	LSR_uc002nym.2_Missense_Mutation_p.S428Y|LSR_uc002nyn.2_Missense_Mutation_p.S379Y|LSR_uc002nyo.2_Missense_Mutation_p.S427Y|LSR_uc010xsr.1_Missense_Mutation_p.S339Y|LSR_uc002nyp.2_Missense_Mutation_p.S389Y|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	447	Cytoplasmic (Potential).				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCTCGGCCTTCCCGGGGCCCT	0.701												
FFAR2	2867	broad.mit.edu	37	19	35941379	35941379	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:35941379C>T	uc002nzg.2	+	2	843	c.763C>T	c.(763-765)CGG>TGG	p.R255W	FFAR2_uc010eea.2_Missense_Mutation_p.R255W	NM_005306	NP_005297	O15552	FFAR2_HUMAN	free fatty acid receptor 2	255	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCCCTGGTGGCGGTCAATAGC	0.572												
ATP4A	495	broad.mit.edu	37	19	36046156	36046156	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36046156G>A	uc002oal.1	-	15	2267	c.2238C>T	c.(2236-2238)GGC>GGT	p.G746G	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	746	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	AGCCAGCGATGCCCATGGCTA	0.592												
HAUS5	23354	broad.mit.edu	37	19	36105982	36105982	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36105982C>T	uc002oam.1	+	5	309	c.258C>T	c.(256-258)CGC>CGT	p.R86R		NM_015302	NP_056117	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	86	Potential.				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle					0						CTGTGACCCGCCTGCGGGCAG	0.602												
PRODH2	58510	broad.mit.edu	37	19	36293939	36293939	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36293939C>T	uc002obx.1	-	9	1289	c.1271G>A	c.(1270-1272)CGC>CAC	p.R424H		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	kidney and liver proline oxidase 1	424					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			ovary(2)	2	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGGCCATGGCGGGCCACGTG	0.612												
LRFN3	79414	broad.mit.edu	37	19	36431147	36431147	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36431147T>A	uc002oco.2	+	2	1272	c.820T>A	c.(820-822)TCC>ACC	p.S274T		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	274	LRRCT.|Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGCCTGCGCGTCCCCACCTGC	0.701												
LRFN3	79414	broad.mit.edu	37	19	36435683	36435683	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36435683C>T	uc002oco.2	+	3	2101	c.1649C>T	c.(1648-1650)TCG>TTG	p.S550L		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	550	Helical; (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATCGTAGCCTCGGTACTGGTC	0.667												
WDR62	284403	broad.mit.edu	37	19	36594542	36594542	+	Missense_Mutation	SNP	C	C	T	rs111294536	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36594542C>T	uc002odc.2	+	30	3888	c.3797C>T	c.(3796-3798)GCG>GTG	p.A1266V	WDR62_uc002odd.2_Missense_Mutation_p.A1271V	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1266	WD 15.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATCACCACCGCGACAACACCC	0.667												
ZNF565	147929	broad.mit.edu	37	19	36686014	36686014	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36686014T>C	uc002odn.2	-	3	162	c.54A>G	c.(52-54)GAA>GAG	p.E18E	ZNF565_uc010ees.2_5'UTR|ZNF565_uc002odo.2_Silent_p.E18E|ZNF565_uc002odp.1_Silent_p.E18E	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	zinc finger protein 565	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			ACTTCCATTCTTCCAGAGAGA	0.443												
ZFP82	284406	broad.mit.edu	37	19	36883660	36883660	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36883660G>A	uc002ody.1	-	5	1817	c.1582C>T	c.(1582-1584)CAT>TAT	p.H528Y		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	528	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						TTTACATTATGAATTTTCAGA	0.328												
ZNF585A	199704	broad.mit.edu	37	19	37643977	37643977	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:37643977C>T	uc002ofo.1	-	5	1055	c.824G>A	c.(823-825)TGC>TAC	p.C275Y	ZNF585A_uc002ofm.1_Missense_Mutation_p.C220Y|ZNF585A_uc002ofn.1_Missense_Mutation_p.C220Y	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	275	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGCCTGTCCGCATTCAATACA	0.433												
ZNF585B	92285	broad.mit.edu	37	19	37676233	37676233	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:37676233G>C	uc002ofq.2	-	5	2460	c.2206C>G	c.(2206-2208)CAT>GAT	p.H736D	uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.H550D	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	zinc finger protein 585B	736	C2H2-type 20.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTGTCTGATGTTTATTCAAA	0.483												
SIPA1L3	23094	broad.mit.edu	37	19	38572477	38572477	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:38572477A>G	uc002ohk.2	+	3	781	c.272A>G	c.(271-273)GAG>GGG	p.E91G		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	91					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCCAAGCGGGAGGCCCTGAGA	0.577												
CATSPERG	57828	broad.mit.edu	37	19	38849098	38849098	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:38849098C>A	uc002oih.3	+	13	1480	c.1393C>A	c.(1393-1395)CTA>ATA	p.L465I	CATSPERG_uc002oig.3_Missense_Mutation_p.L425I|CATSPERG_uc002oif.3_Missense_Mutation_p.L105I|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	465	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						CCTGATGATCCTAGGGACAGA	0.572												
RASGRP4	115727	broad.mit.edu	37	19	38901993	38901993	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:38901993C>T	uc002oir.2	-	14	1923	c.1709G>A	c.(1708-1710)CGC>CAC	p.R570H	RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Missense_Mutation_p.R501H|RASGRP4_uc010xub.1_Missense_Mutation_p.R536H|RASGRP4_uc010xuc.1_Missense_Mutation_p.R478H|RASGRP4_uc010xud.1_Missense_Mutation_p.R473H|RASGRP4_uc010xue.1_Missense_Mutation_p.R381H|RASGRP4_uc010egb.2_Missense_Mutation_p.R556H	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4 isoform a	570	Phorbol-ester/DAG-type.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			pancreas(1)|lung(1)|skin(1)	3	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACCCCGACAGCGGTAGCCTTG	0.622												
RYR1	6261	broad.mit.edu	37	19	38980033	38980033	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:38980033T>C	uc002oit.2	+	35	5894	c.5764T>C	c.(5764-5766)TTG>CTG	p.L1922L	RYR1_uc002oiu.2_Silent_p.L1922L	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1922	Glu-rich (acidic).|Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGAAGAAGGCTTGGAGGAAGG	0.353												
RYR1	6261	broad.mit.edu	37	19	39002998	39002998	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:39002998C>T	uc002oit.2	+	63	9477	c.9347C>T	c.(9346-9348)TCG>TTG	p.S3116L	RYR1_uc002oiu.2_Missense_Mutation_p.S3116L|RYR1_uc002oiv.1_Missense_Mutation_p.S36L|RYR1_uc010xuf.1_Missense_Mutation_p.S36L	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3116	Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCAAGGTGTCGCAGGCGCGC	0.637												
RYR1	6261	broad.mit.edu	37	19	39034443	39034443	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:39034443G>A	uc002oit.2	+	87	12070	c.11940G>A	c.(11938-11940)GCG>GCA	p.A3980A	RYR1_uc002oiu.2_Silent_p.A3975A|RYR1_uc002oiv.1_Silent_p.A889A	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3980					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGAGCCTGGCGCACAGTCGCC	0.642												
SARS2	54938	broad.mit.edu	37	19	39406305	39406305	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:39406305A>G	uc002oka.2	-	16	1658	c.1498T>C	c.(1498-1500)TAC>CAC	p.Y500H	SARS2_uc002ojz.2_Missense_Mutation_p.Y310H|SARS2_uc010xup.1_Missense_Mutation_p.Y502H|SARS2_uc002okb.2_Missense_Mutation_p.Y500H|SARS2_uc010xuq.1_Missense_Mutation_p.Y500H	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2 isoform b precursor	500					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCCGATGTACTGGAGAGGC	0.657												
NCCRP1	342897	broad.mit.edu	37	19	39691347	39691347	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:39691347G>A	uc002okq.1	+	6	798	c.779G>A	c.(778-780)CGG>CAG	p.R260Q		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1	260	FBA.				protein catabolic process					ovary(1)	1						GGTGGGCTGCGGCGGACACGG	0.622												
LRFN1	57622	broad.mit.edu	37	19	39799138	39799138	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:39799138G>A	uc002okw.2	-	2	1451	c.1451C>T	c.(1450-1452)GCG>GTG	p.A484V		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	484	Fibronectin type-III.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			ACGGCCCGCCGCCAGGTCATT	0.672												
SAMD4B	55095	broad.mit.edu	37	19	39867347	39867347	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:39867347C>T	uc002olb.2	+	9	2055	c.1020C>T	c.(1018-1020)AAC>AAT	p.N340N	SAMD4B_uc002ola.2_Silent_p.N340N	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	340	SAM.						protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TATCACAGAACGTCACCAAAG	0.542												
SUPT5H	6829	broad.mit.edu	37	19	39960890	39960890	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:39960890G>A	uc002olo.3	+	17	1685	c.1506G>A	c.(1504-1506)CTG>CTA	p.L502L	SUPT5H_uc002olp.3_Silent_p.L502L|SUPT5H_uc002olq.3_Silent_p.L498L|SUPT5H_uc002oln.3_Silent_p.L502L|SUPT5H_uc002olr.3_Silent_p.L502L|SUPT5H_uc002ols.1_Silent_p.L125L|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	502	KOW 3.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCGTTATCCTGTTCTCTGACC	0.572												
FCGBP	8857	broad.mit.edu	37	19	40419887	40419887	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:40419887G>A	uc002omp.3	-	6	3115	c.3107C>T	c.(3106-3108)ACG>ATG	p.T1036M		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	1036	VWFD 2.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCGGGCCTCGTCTCTTCTTG	0.612												
SPTBN4	57731	broad.mit.edu	37	19	41040082	41040082	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:41040082C>T	uc002ony.2	+	20	4277	c.4191C>T	c.(4189-4191)AGC>AGT	p.S1397S	SPTBN4_uc002onx.2_Silent_p.S1397S|SPTBN4_uc002onz.2_Silent_p.S1397S|SPTBN4_uc010egx.2_Silent_p.S140S|SPTBN4_uc010egy.1_Silent_p.S73S|SPTBN4_uc002ooa.2_Silent_p.S73S|SPTBN4_uc010egz.1_Silent_p.S73S	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1397	Spectrin 11.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCTGGAGAGCACCACCCAGG	0.632												
C19orf54	284325	broad.mit.edu	37	19	41249854	41249854	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:41249854G>A	uc002oou.1	-	5	794	c.674C>T	c.(673-675)CCG>CTG	p.P225L	C19orf54_uc002oow.1_Missense_Mutation_p.P53L|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Missense_Mutation_p.R46C|C19orf54_uc010xvs.1_RNA	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	hypothetical protein LOC284325	225											0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCTCTGACACGGCTCATGGTT	0.612												
AXL	558	broad.mit.edu	37	19	41762422	41762422	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:41762422A>G	uc010ehj.2	+	18	2292	c.2102A>G	c.(2101-2103)GAC>GGC	p.D701G	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehk.2_Missense_Mutation_p.D692G	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	701	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						TACAATGGGGACTACTACCGC	0.537												
HNRNPUL1	11100	broad.mit.edu	37	19	41779901	41779901	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:41779901A>G	uc002oqb.3	+	4	876	c.587A>G	c.(586-588)CAG>CGG	p.Q196R	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.Q96R|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.Q96R|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.Q196R|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.Q153R|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.Q96R|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.Q96R|HNRNPUL1_uc010eho.2_Missense_Mutation_p.Q96R|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.Q96R|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.Q52R|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.Q96R	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	196	B30.2/SPRY.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						CGCTCTCCTCAGCCTCCTGCT	0.428												
HNRNPUL1	11100	broad.mit.edu	37	19	41811617	41811617	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:41811617T>C	uc002oqb.3	+	14	2588	c.2299T>C	c.(2299-2301)TAC>CAC	p.Y767H	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.Y667H|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.Y677H|HNRNPUL1_uc010ehm.2_Intron|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.Y663H|HNRNPUL1_uc002oqe.3_Missense_Mutation_p.Y76H|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.Y667H|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.Y677H|HNRNPUL1_uc010eho.2_Missense_Mutation_p.Y667H|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.Y667H|HNRNPUL1_uc010ehp.2_Intron|HNRNPUL1_uc002oqf.3_Missense_Mutation_p.Y301H	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	767	Tyr-rich.|Pro-rich.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						CCAGGGAGGTTACAGCCAGGG	0.567												
CCDC97	90324	broad.mit.edu	37	19	41822545	41822545	+	Silent	SNP	C	C	T	rs139158128		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:41822545C>T	uc002oqg.2	+	2	425	c.303C>T	c.(301-303)CAC>CAT	p.H101H	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	101											0						AGCTGTACCACGAGAAGCCAC	0.632												
ZNF574	64763	broad.mit.edu	37	19	42584906	42584906	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:42584906C>A	uc002osm.3	+	2	2317	c.2148C>A	c.(2146-2148)GCC>GCA	p.A716A	ZNF574_uc002osk.3_Silent_p.A806A	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	716	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				CACCAGTTGCCTCTCCAGCAG	0.682												
GSK3A	2931	broad.mit.edu	37	19	42736814	42736814	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:42736814C>T	uc002otb.1	-	9	1238	c.1119G>A	c.(1117-1119)CCG>CCA	p.P373P	GSK3A_uc002ota.1_Silent_p.P291P|GSK3A_uc002otc.2_RNA	NM_019884	NP_063937	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	373	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			ovary(2)|lung(2)	4		Prostate(69;0.00682)				TGGCCTCTGGCGGCGTTCGAG	0.587												
CIC	23152	broad.mit.edu	37	19	42791286	42791286	+	Missense_Mutation	SNP	G	G	A	rs61741480		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:42791286G>A	uc002otf.1	+	3	386	c.346G>A	c.(346-348)GTG>ATG	p.V116M		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	116	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CCCTTTGGGGGTGGTGGAATC	0.682			T	DUX4	soft tissue sarcoma							
MEGF8	1954	broad.mit.edu	37	19	42862379	42862379	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:42862379G>A	uc002otl.3	+	28	5529	c.4894G>A	c.(4894-4896)GCG>ACG	p.A1632T	MEGF8_uc002otm.3_Missense_Mutation_p.A1240T	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1699	Extracellular (Potential).|Kelch 10.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				TGTGGAGCTGGCGGCCCCATC	0.622												
CEACAM1	634	broad.mit.edu	37	19	43023297	43023297	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:43023297G>A	uc002otv.2	-	5	1162	c.1049C>T	c.(1048-1050)ACA>ATA	p.T350I	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_Intron|CEACAM1_uc002otw.2_Missense_Mutation_p.T350I|CEACAM1_uc010eij.2_Missense_Mutation_p.T350I|CEACAM1_uc002otx.2_Intron|CEACAM1_uc002oty.2_Intron|CEACAM1_uc002otz.2_Intron|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Missense_Mutation_p.T350I|CEACAM1_uc002oub.2_Intron	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	350	Ig-like C2-type 3.|Extracellular (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	AGTGTCATTTGTGGAGCAGGT	0.512												
IRGQ	126298	broad.mit.edu	37	19	44096570	44096570	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44096570C>T	uc002oww.2	-	2	1598	c.1480G>A	c.(1480-1482)GCG>ACG	p.A494T	IRGQ_uc010eiv.2_Missense_Mutation_p.A494T	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	494	Ala-rich.						protein binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0199)				AGTGGTGCCGCCGCCGCCGCC	0.731												
IRGQ	126298	broad.mit.edu	37	19	44097020	44097020	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44097020C>T	uc002oww.2	-	2	1148	c.1030G>A	c.(1030-1032)GGC>AGC	p.G344S	IRGQ_uc010eiv.2_Missense_Mutation_p.G344S	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	344							protein binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0199)				TCCATCTTGCCTTCTCCCAGA	0.592												
CADM4	199731	broad.mit.edu	37	19	44131420	44131420	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44131420G>A	uc002oxc.1	-	3	311	c.262C>T	c.(262-264)CGG>TGG	p.R88W		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4 precursor	88	Ig-like V-type.|Extracellular (Potential).				cell adhesion	integral to membrane					0		Prostate(69;0.0199)				AGCCGGATCCGCACCCGGCGT	0.597												
ZNF230	7773	broad.mit.edu	37	19	44515452	44515452	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44515452A>G	uc002oyb.1	+	5	1512	c.1261A>G	c.(1261-1263)AAA>GAA	p.K421E		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	421	C2H2-type 10; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				AAAACCCTTCAAATGTGAGGA	0.433												
ZNF225	7768	broad.mit.edu	37	19	44636503	44636503	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44636503G>T	uc002oyj.1	+	5	1979	c.1736G>T	c.(1735-1737)CGG>CTG	p.R579L	ZNF225_uc010eje.1_Missense_Mutation_p.R496L|ZNF225_uc010ejf.1_Missense_Mutation_p.R579L	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	579	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				AGCTTTAGCCGGGCCTCAAGT	0.428												
ZNF227	7770	broad.mit.edu	37	19	44740078	44740078	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44740078A>G	uc002oyu.2	+	6	1700	c.1495A>G	c.(1495-1497)AAG>GAG	p.K499E	ZNF227_uc010xwu.1_Missense_Mutation_p.K448E|ZNF227_uc002oyv.2_Missense_Mutation_p.K499E|ZNF227_uc010xwv.1_Missense_Mutation_p.K448E|ZNF227_uc010xww.1_Missense_Mutation_p.K420E|ZNF227_uc002oyw.2_Missense_Mutation_p.K471E|ZNF227_uc010ejh.2_Missense_Mutation_p.K492E|ZNF235_uc002oyx.1_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	499	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				GGAGTGTGGTAAGGGCTTCAG	0.468												
ZNF235	9310	broad.mit.edu	37	19	44791768	44791768	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44791768C>T	uc002oza.3	-	5	1923	c.1820G>A	c.(1819-1821)CGA>CAA	p.R607Q	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.R603Q|ZNF235_uc010xwx.1_Missense_Mutation_p.R521Q	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	607	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				CTGACTGAATCGCTTCTGACA	0.493												
ZNF235	9310	broad.mit.edu	37	19	44792901	44792901	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44792901C>T	uc002oza.3	-	5	790	c.687G>A	c.(685-687)GTG>GTA	p.V229V	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Silent_p.V225V|ZNF235_uc010xwx.1_Silent_p.V143V	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				CTCTTTTGTGCACTATATTAT	0.358												
ZNF235	9310	broad.mit.edu	37	19	44803829	44803829	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44803829C>T	uc002oza.3	-	3	175	c.72G>A	c.(70-72)CTG>CTA	p.L24L	ZNF235_uc002oyx.1_RNA|ZNF235_uc010eji.2_Silent_p.L24L|ZNF235_uc002ozb.3_Silent_p.L24L|ZNF235_uc010xwx.1_5'UTR	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				CAGAGTCCAGCAGCCCCAGCT	0.522												
ZNF229	7772	broad.mit.edu	37	19	44933315	44933315	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44933315G>A	uc002oze.1	-	6	2075	c.1641C>T	c.(1639-1641)TGC>TGT	p.C547C	ZNF229_uc010ejk.1_Silent_p.C201C|ZNF229_uc010ejl.1_Silent_p.C541C	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	547	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				TCCCGCACTCGCATTTGTAGG	0.512												
CEACAM20	125931	broad.mit.edu	37	19	45026685	45026685	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45026685A>G	uc010ejn.1	-	4	745	c.729T>C	c.(727-729)GGT>GGC	p.G243G	CEACAM20_uc010ejo.1_Silent_p.G243G|CEACAM20_uc010ejp.1_Silent_p.G243G|CEACAM20_uc010ejq.1_Silent_p.G243G	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion	243	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				large_intestine(2)	2		Prostate(69;0.0352)				CCTTCAGAGTACCCAGGCTGG	0.522												
CBLC	23624	broad.mit.edu	37	19	45281378	45281378	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45281378G>A	uc002ozs.2	+	1	253	c.190G>A	c.(190-192)GCG>ACG	p.A64T	CBLC_uc010ejt.2_Missense_Mutation_p.A64T	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Cas-Br-M (murine) ecotropic retroviral	64	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|skin(1)	6	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				TTCTcggcgggcggccggcgg	0.517			M		AML							
BCAM	4059	broad.mit.edu	37	19	45316592	45316592	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45316592A>G	uc002ozu.2	+	5	634	c.590A>G	c.(589-591)GAG>GGG	p.E197G	BCAM_uc002ozt.1_Missense_Mutation_p.E197G	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	197	Extracellular (Potential).|Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GTGCCCGTAGAGATGAACCCA	0.692												
BCAM	4059	broad.mit.edu	37	19	45318008	45318008	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45318008C>T	uc002ozu.2	+	8	1113	c.1069C>T	c.(1069-1071)CGC>TGC	p.R357C	BCAM_uc002ozt.1_Missense_Mutation_p.R357C	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	357	Extracellular (Potential).				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GCTGGAGCTGCGCGTGGCCTG	0.667												
GEMIN7	79760	broad.mit.edu	37	19	45593471	45593471	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45593471C>A	uc002pap.1	+	3	250	c.99C>A	c.(97-99)CCC>CCA	p.P33P	uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Silent_p.P33P|GEMIN7_uc002par.1_Silent_p.P33P	NM_001007270	NP_001007271	Q9H840	GEMI7_HUMAN	gemin 7	33					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		GCAGAGCCCCCTTGAGGCCAG	0.627												
GEMIN7	79760	broad.mit.edu	37	19	45593631	45593631	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45593631C>T	uc002pap.1	+	3	410	c.259C>T	c.(259-261)CGT>TGT	p.R87C	uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Missense_Mutation_p.R87C|GEMIN7_uc002par.1_Missense_Mutation_p.R87C	NM_001007270	NP_001007271	Q9H840	GEMI7_HUMAN	gemin 7	87					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		CGAGGGTGTGCGTGTGGCCGC	0.647												
TRAPPC6A	79090	broad.mit.edu	37	19	45667454	45667454	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45667454A>T	uc002paw.2	-	4	341	c.322T>A	c.(322-324)TCT>ACT	p.S108T	TRAPPC6A_uc002pav.2_Missense_Mutation_p.S122T			O75865	TPC6A_HUMAN	SubName: Full=TRAPPC6Adelta29-42; SubName: Full=Trafficking protein particle complex 6A, isoform CRA_a;	108				SFPLLLPMASGLQYLEEAPKFLAFT -> KLSPPPPDGLWP AVSGGSTQVPGLH (in Ref. 1; AAF28967).	vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding				0		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		TGCAGGCCAGAGGCCATCGGG	0.627												
PPP1R13L	10848	broad.mit.edu	37	19	45885943	45885943	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45885943A>G	uc002pbn.2	-	12	2367	c.2290T>C	c.(2290-2292)TAC>CAC	p.Y764H	PPP1R13L_uc002pbm.2_Missense_Mutation_p.Y343H|PPP1R13L_uc002pbo.2_Missense_Mutation_p.Y764H	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	764	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CAGAGAGCGTACACTGCCCCG	0.667												
PPP1R13L	10848	broad.mit.edu	37	19	45899882	45899882	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45899882G>A	uc002pbn.2	-	4	710	c.633C>T	c.(631-633)TAC>TAT	p.Y211Y	PPP1R13L_uc002pbo.2_Silent_p.Y211Y|PPP1R13L_uc002pbp.2_Silent_p.Y211Y	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	211	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTGGCGCGTCGTAGGCTGTGG	0.781												
EML2	24139	broad.mit.edu	37	19	46116926	46116926	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:46116926A>T	uc002pcn.2	-	18	1732	c.1697T>A	c.(1696-1698)ATC>AAC	p.I566N	EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.I450N|EML2_uc010xxl.1_Missense_Mutation_p.I713N|EML2_uc010xxm.1_Missense_Mutation_p.I767N	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	566					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CTCAGACCAGATCCCTGTGGG	0.557												
GIPR	2696	broad.mit.edu	37	19	46173991	46173991	+	Silent	SNP	A	A	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:46173991A>C	uc002pcu.1	+	3	270	c.171A>C	c.(169-171)TCA>TCC	p.S57S	GIPR_uc002pct.1_Silent_p.S57S|GIPR_uc010xxp.1_Silent_p.S57S|GIPR_uc010xxq.1_RNA	NM_000164	NP_000155	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	57	Extracellular (Potential).				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		AACCGCCTTCAGGTGTGACCA	0.687												
SNRPD2	6633	broad.mit.edu	37	19	46190938	46190938	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:46190938A>G	uc002pcw.2	-	3	527	c.230T>C	c.(229-231)GTA>GCA	p.V77A	SNRPD2_uc002pcv.2_Missense_Mutation_p.V67A	NM_004597	NP_004588	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 isoform 1	77					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		ACTCTTGGGTACCTCAGTCCA	0.587												
QPCTL	54814	broad.mit.edu	37	19	46198751	46198751	+	Silent	SNP	C	C	A	rs145816901		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:46198751C>A	uc010xxr.1	+	3	629	c.408C>A	c.(406-408)CCC>CCA	p.P136P	QPCTL_uc010ekn.2_Intron	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like isoform	136				Missing (in Ref. 4; AAH11553).	peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		AGCTGGATCCCTTCACAGCCT	0.642												
FBXO46	23403	broad.mit.edu	37	19	46215024	46215024	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:46215024C>T	uc002pcy.2	-	2	1855	c.1730G>A	c.(1729-1731)CGC>CAC	p.R577H	FBXO46_uc002pcz.2_Missense_Mutation_p.R577H	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	577							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GAGGCCCAGGCGGCAGCCGGG	0.577												
FBXO46	23403	broad.mit.edu	37	19	46215953	46215953	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:46215953G>A	uc002pcy.2	-	2	926	c.801C>T	c.(799-801)AAC>AAT	p.N267N	FBXO46_uc002pcz.2_Silent_p.N267N	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	267							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GCTCCCGGCCGTTGGAGATGC	0.731												
RSPH6A	81492	broad.mit.edu	37	19	46307719	46307719	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:46307719G>A	uc002pdm.2	-	3	1587	c.1444C>T	c.(1444-1446)CGG>TGG	p.R482W	RSPH6A_uc002pdl.2_Missense_Mutation_p.R218W	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	482						intracellular				ovary(1)|central_nervous_system(1)	2						ATCTGGGCCCGCAGGTAGTTG	0.627												
SYMPK	8189	broad.mit.edu	37	19	46328490	46328490	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:46328490G>A	uc002pdn.2	-	18	2674	c.2429C>T	c.(2428-2430)GCC>GTC	p.A810V	SYMPK_uc002pdo.1_Missense_Mutation_p.A810V|SYMPK_uc002pdp.1_Missense_Mutation_p.A810V	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	810					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGTGTACACGGCCGCCAGTTC	0.642												
STRN4	29888	broad.mit.edu	37	19	47224014	47224014	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:47224014G>T	uc002pfl.2	-	17	2140	c.2107C>A	c.(2107-2109)CTG>ATG	p.L703M	STRN4_uc002pfm.2_Missense_Mutation_p.L710M|STRN4_uc010xyf.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	703	WD 6.					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CAGAGACGCAGGGAGCAGTCA	0.637												
GPR77	27202	broad.mit.edu	37	19	47844795	47844795	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:47844795G>A	uc010ela.1	+	2	957	c.739G>A	c.(739-741)GCA>ACA	p.A247T	GPR77_uc002pgk.1_Missense_Mutation_p.A247T	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	G protein-coupled receptor 77	247	Helical; Name=6; (Potential).				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			ovary(1)	1		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		TGTCTGCTGGGCACCCTACCA	0.701												
DHX34	9704	broad.mit.edu	37	19	47879807	47879807	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:47879807C>T	uc010xyn.1	+	12	2930	c.2589C>T	c.(2587-2589)GAC>GAT	p.D863D	DHX34_uc010xyo.1_5'Flank	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	863						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCAACTGCGACGGAAGCCGAG	0.692												
GLTSCR1	29998	broad.mit.edu	37	19	48197675	48197675	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:48197675C>T	uc002phh.3	+	8	2781	c.2587C>T	c.(2587-2589)CGC>TGC	p.R863C	GLTSCR1_uc002phi.3_Missense_Mutation_p.R621C	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	863							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCCGCCTCTCCGCCCCCAGTC	0.697												
GLTSCR1	29998	broad.mit.edu	37	19	48197801	48197801	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:48197801G>A	uc002phh.3	+	8	2907	c.2713G>A	c.(2713-2715)GAC>AAC	p.D905N	GLTSCR1_uc002phi.3_Missense_Mutation_p.D663N	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	905							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		TACGCCATCCGACTTCCAGCT	0.701												
SEPW1	6415	broad.mit.edu	37	19	48283985	48283985	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:48283985C>T	uc010xyw.1	+	2	234	c.33C>T	c.(31-33)GGC>GGT	p.G11G	SEPW1_uc002pho.1_5'Flank	NM_003009	NP_003000	P63302	SELW_HUMAN	selenoprotein W, 1	11					cell redox homeostasis	cytoplasm	selenium binding				0		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		all cancers(93;0.000291)|OV - Ovarian serous cystadenocarcinoma(262;0.000305)|Epithelial(262;0.0146)|GBM - Glioblastoma multiforme(486;0.0273)		CTACCAGTGGCGCTTGAGGCT	0.627												
CRX	1406	broad.mit.edu	37	19	48342922	48342922	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:48342922G>A	uc002phq.3	+	4	802	c.598G>A	c.(598-600)GCT>ACT	p.A200T		NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	200					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCCGGCCTCCGCTTTCTGCTC	0.677												
KCNJ14	3770	broad.mit.edu	37	19	48967755	48967755	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:48967755C>T	uc002pje.1	+	3	1437	c.1032C>T	c.(1030-1032)GTC>GTT	p.V344V	KCNJ14_uc002pjf.1_Silent_p.V344V	NM_013348	NP_037480	Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel J14	344	Cytoplasmic (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			skin(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		AGTATGAGGTCGACTATCGCC	0.587												
CYTH2	9266	broad.mit.edu	37	19	48981786	48981786	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:48981786A>G	uc002pjj.3	+	12	1352	c.1052A>G	c.(1051-1053)CAC>CGC	p.H351R	CYTH2_uc002pji.2_RNA	NM_017457	NP_059431	Q99418	CYH2_HUMAN	cytohesin 2 isoform 1	351	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						GAGGGAAACCACATGGTGTAC	0.473												
SPACA4	171169	broad.mit.edu	37	19	49110328	49110328	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:49110328C>A	uc002pjo.2	+	1	329	c.93C>A	c.(91-93)TCC>TCA	p.S31S	FAM83E_uc002pjn.2_Intron	NM_133498	NP_598005	Q8TDM5	SACA4_HUMAN	sperm acrosomal membrane protein 14 precursor	31	UPAR/Ly6 1.				cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane				central_nervous_system(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		TCACCGACTCCATGCAGTGTC	0.632												
HSD17B14	51171	broad.mit.edu	37	19	49339655	49339655	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:49339655G>A	uc002pkv.1	-	1	280	c.14C>T	c.(13-15)ACG>ATG	p.T5M	HSD17B14_uc010emk.1_Missense_Mutation_p.T5M	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN	dehydrogenase/reductase (SDR family) member 10	5					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity				0		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		GGCATAGCGCGTTCCCGTAGC	0.647											OREG0025610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TULP2	7288	broad.mit.edu	37	19	49400623	49400623	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:49400623C>T	uc002pkz.2	-	3	214	c.63G>A	c.(61-63)AGG>AGA	p.R21R	NUCB1_uc002pla.2_5'Flank|NUCB1_uc002plb.3_5'Flank	NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	21					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GCTTCTGCAGCCTCATAGCAG	0.597												
LIN7B	64130	broad.mit.edu	37	19	49619556	49619556	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:49619556G>A	uc002pmp.2	+	4	309	c.265G>A	c.(265-267)GCA>ACA	p.A89T		NM_022165	NP_071448	Q9HAP6	LIN7B_HUMAN	lin-7 homolog B	89					exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein domain specific binding				0		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01)		CGAGGGCCACGCACATCCCAG	0.597												
PPFIA3	8541	broad.mit.edu	37	19	49636603	49636603	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:49636603C>T	uc002pmr.2	+	9	1468	c.1136C>T	c.(1135-1137)GCG>GTG	p.A379V	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Missense_Mutation_p.A303V|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.A247V	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	379	Potential.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GCGCAGCTGGCGCAGCGCGTG	0.682												
PPFIA3	8541	broad.mit.edu	37	19	49646100	49646100	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:49646100C>T	uc002pmr.2	+	21	2916	c.2584C>T	c.(2584-2586)CGG>TGG	p.R862W	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.R730W|PPFIA3_uc002pmt.2_Missense_Mutation_p.R10W	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	862	SAM 1.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGCCGCCTGCCGGGCCAATGT	0.468												
TRPM4	54795	broad.mit.edu	37	19	49713993	49713993	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:49713993C>T	uc002pmw.2	+	22	3427	c.3355C>T	c.(3355-3357)CGG>TGG	p.R1119W	TRPM4_uc010emu.2_Missense_Mutation_p.R974W|TRPM4_uc010yak.1_Missense_Mutation_p.R583W|TRPM4_uc002pmx.2_Missense_Mutation_p.R945W|TRPM4_uc010emv.2_Missense_Mutation_p.R1004W|TRPM4_uc010yal.1_Missense_Mutation_p.R765W|TRPM4_uc002pmy.2_Missense_Mutation_p.R461W	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	1119	Cytoplasmic (Potential).|Calmodulin-binding.				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGAAGCCGAGCGGAAGCTGCT	0.627												
SLC6A16	28968	broad.mit.edu	37	19	49812999	49812999	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:49812999C>T	uc002pmz.2	-	5	1019	c.785G>A	c.(784-786)GGG>GAG	p.G262E	SLC6A16_uc002pna.2_Missense_Mutation_p.G262E|hsa-mir-4324|MI0015854_5'Flank	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	262	Extracellular (Potential).					integral to membrane|intracellular	neurotransmitter:sodium symporter activity			skin(2)|ovary(1)|kidney(1)	4		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GACTGGTGACCCGCCATCCTC	0.542												
RCN3	57333	broad.mit.edu	37	19	50040398	50040398	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50040398G>A	uc002poj.2	+	4	1001	c.554G>A	c.(553-555)CGA>CAA	p.R185Q		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	185	EF-hand 3.|3; possibly ancestral (Potential).					endoplasmic reticulum lumen	calcium ion binding|protein binding			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		ATGGCCACTCGAGAGGAGCTG	0.622												
PRR12	57479	broad.mit.edu	37	19	50119005	50119005	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50119005C>T	uc002poo.3	+	9	5026	c.5026C>T	c.(5026-5028)CGC>TGC	p.R1676C		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	855	Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCTTCTAGACGCTCTGGGCA	0.582												
RRAS	6237	broad.mit.edu	37	19	50143242	50143242	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50143242G>A	uc002pop.1	-	1	159	c.114C>T	c.(112-114)GGC>GGT	p.G38G	SCAF1_uc002poq.2_5'Flank	NM_006270	NP_006261	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	38	GTP.				axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		TGCCCACGCCGCCGCCGCCCA	0.572												
IRF3	3661	broad.mit.edu	37	19	50165361	50165361	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50165361G>A	uc010end.1	-	6	1208	c.826C>T	c.(826-828)CGG>TGG	p.R276W	IRF3_uc002pos.1_5'Flank|IRF3_uc002pot.1_Intron|IRF3_uc002pox.1_Missense_Mutation_p.R276W|IRF3_uc002poy.1_Missense_Mutation_p.R276W|IRF3_uc002pou.2_Missense_Mutation_p.R276W|IRF3_uc002pov.2_Missense_Mutation_p.R130W|IRF3_uc002pow.2_Missense_Mutation_p.R276W|IRF3_uc002poz.1_Missense_Mutation_p.R276W	NM_001571	NP_001562	Q14653	IRF3_HUMAN	interferon regulatory factor 3	276	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGCCCGGCCCGCCAGAGAGCC	0.667												
IRF3	3661	broad.mit.edu	37	19	50166694	50166694	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50166694G>A	uc010end.1	-	3	625	c.243C>T	c.(241-243)CGC>CGT	p.R81R	IRF3_uc002pos.1_5'Flank|IRF3_uc002pot.1_Silent_p.R81R|IRF3_uc002pox.1_Silent_p.R81R|IRF3_uc002poy.1_Silent_p.R81R|IRF3_uc002pou.2_Silent_p.R81R|IRF3_uc002pov.2_5'UTR|IRF3_uc002pow.2_Silent_p.R81R|IRF3_uc002poz.1_Silent_p.R81R|IRF3_uc010ene.1_Intron|BCL2L12_uc002ppa.2_5'Flank|BCL2L12_uc002ppb.2_5'Flank	NM_001571	NP_001562	Q14653	IRF3_HUMAN	interferon regulatory factor 3	81	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGAGGGCAGAGCGGAAATTCC	0.572												
AP2A1	160	broad.mit.edu	37	19	50304308	50304308	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50304308C>T	uc002ppn.2	+	12	1757	c.1546C>T	c.(1546-1548)CGC>TGC	p.R516C	AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.2_Missense_Mutation_p.R516C|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	516					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGGGGACCCCCGCTCCAGGTG	0.642												
FUZ	80199	broad.mit.edu	37	19	50314914	50314914	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50314914C>T	uc002ppq.1	-	4	466	c.361G>A	c.(361-363)GTG>ATG	p.V121M	FUZ_uc002ppr.1_Missense_Mutation_p.V21M|FUZ_uc002pps.1_RNA|FUZ_uc002ppt.1_RNA|FUZ_uc002ppu.1_Missense_Mutation_p.V85M|FUZ_uc002ppv.1_Missense_Mutation_p.V71M|FUZ_uc010ybd.1_Missense_Mutation_p.V121M	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	fuzzy homolog	121					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		AGTCTCTCCACGTTGCGGATA	0.493												
IL4I1	259307	broad.mit.edu	37	19	50393711	50393711	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50393711G>A	uc002pqt.1	-	8	998	c.920C>T	c.(919-921)GCG>GTG	p.A307V	IL4I1_uc002pqv.1_Missense_Mutation_p.A316V|IL4I1_uc010eno.1_Missense_Mutation_p.A315V|IL4I1_uc002pqw.1_Missense_Mutation_p.A315V|IL4I1_uc002pqu.1_Missense_Mutation_p.A329V	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	307						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CAGATTCCGCGCCGGGGGAGA	0.682											OREG0025629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IL4I1	259307	broad.mit.edu	37	19	50393714	50393714	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50393714G>A	uc002pqt.1	-	8	995	c.917C>T	c.(916-918)CCG>CTG	p.P306L	IL4I1_uc002pqv.1_Missense_Mutation_p.P315L|IL4I1_uc010eno.1_Missense_Mutation_p.P314L|IL4I1_uc002pqw.1_Missense_Mutation_p.P314L|IL4I1_uc002pqu.1_Missense_Mutation_p.P328L	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	306						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		ATTCCGCGCCGGGGGAGAGGT	0.687											OREG0025629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NUP62	23636	broad.mit.edu	37	19	50412080	50412080	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50412080T>C	uc002pqx.2	-	2	1089	c.985A>G	c.(985-987)ACC>GCC	p.T329A	IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.T329A|NUP62_uc002pqz.2_Missense_Mutation_p.T329A|NUP62_uc002pra.2_Missense_Mutation_p.T329A|NUP62_uc002prb.2_Missense_Mutation_p.T329A|NUP62_uc002prc.2_Intron	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	329	Ala-rich.|Potential.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGCGCGTAGGTCATGGCGGAG	0.672												
MYH14	79784	broad.mit.edu	37	19	50812298	50812298	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50812298C>T	uc002prr.1	+	40	5748	c.5701C>T	c.(5701-5703)CGG>TGG	p.R1901W	MYH14_uc010enu.1_Missense_Mutation_p.R1942W|MYH14_uc002prq.1_Missense_Mutation_p.R1909W|MYH14_uc010ycb.1_Missense_Mutation_p.R252W|MYH14_uc002prs.1_Missense_Mutation_p.R252W	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	1901	Potential.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCAGCTGAAGCGGCAGCTGGA	0.617												
KCNC3	3748	broad.mit.edu	37	19	50831691	50831691	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50831691C>T	uc002pru.1	-	1	944	c.649G>A	c.(649-651)GCA>ACA	p.A217T	NR1H2_uc002prv.3_5'Flank	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Shaw-related voltage-gated potassium channel	217	Cytoplasmic (Potential).				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		TGGGCGCCTGCGGCGTTGGCG	0.637												
POLD1	5424	broad.mit.edu	37	19	50905095	50905095	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:50905095G>A	uc002psb.3	+	4	433	c.377G>A	c.(376-378)CGC>CAC	p.R126H	POLD1_uc002psc.3_Missense_Mutation_p.R126H|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.R126H	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	126					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CCTGTGCTCCGCGCCTTCGGG	0.687								DNA_polymerases_(catalytic_subunits)				
LRRC4B	94030	broad.mit.edu	37	19	51021093	51021093	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:51021093G>A	uc002pss.2	-	3	2014	c.1877C>T	c.(1876-1878)GCC>GTC	p.A626V		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	626	Cytoplasmic (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGCCGAGGCGGCGGGCAGCTC	0.726												
SHANK1	50944	broad.mit.edu	37	19	51200866	51200866	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:51200866G>A	uc002psx.1	-	13	1936	c.1917C>T	c.(1915-1917)TAC>TAT	p.Y639Y		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	639					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAAAGCTGTCGTAGGAGCCCA	0.502												
GPR32	2854	broad.mit.edu	37	19	51274805	51274805	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:51274805C>T	uc010ycf.1	+	1	948	c.948C>T	c.(946-948)TAC>TAT	p.Y316Y		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	316	Helical; Name=7; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCTTCCTCTACGTCTTCGTTG	0.542												
KLK5	25818	broad.mit.edu	37	19	51452165	51452165	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:51452165G>A	uc002pue.2	-	5	760	c.542C>T	c.(541-543)GCT>GTT	p.A181V	KLK5_uc002puf.2_Missense_Mutation_p.A181V|KLK5_uc002pug.2_Missense_Mutation_p.A181V	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	181	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CTTTGTCCCAGCAGAGGGACA	0.527												
KLK12	43849	broad.mit.edu	37	19	51535263	51535263	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:51535263A>T	uc002pvg.1	-	3	446	c.326T>A	c.(325-327)CTC>CAC	p.L109H	KLK12_uc010ycp.1_RNA|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvh.1_Missense_Mutation_p.L109H|KLK12_uc002pvi.1_Missense_Mutation_p.L109H|KLK12_uc002pvj.1_Intron	NM_145894	NP_665901	Q9UKR0	KLK12_HUMAN	kallikrein 12 isoform 2	109	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			ovary(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		CAGCAGCCGGAGGTCGTGCTC	0.682												
SIGLEC7	27036	broad.mit.edu	37	19	51645702	51645702	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:51645702T>C	uc002pvv.1	+	1	145	c.76T>C	c.(76-78)TAC>CAC	p.Y26H	SIGLEC7_uc002pvw.1_Missense_Mutation_p.Y26H|SIGLEC7_uc010eoq.1_RNA|SIGLEC7_uc010eor.1_Missense_Mutation_p.Y26H	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7 isoform 1	26	Extracellular (Potential).				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			large_intestine(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CCGGAAGGATTACTCGCTGAC	0.507												
ZNF649	65251	broad.mit.edu	37	19	52394603	52394603	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:52394603G>A	uc002pxy.2	-	5	1054	c.786C>T	c.(784-786)TAC>TAT	p.Y262Y	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	zinc finger protein 649	262	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CACTGCACCCGTATGGTTTCT	0.502												
ZNF649	65251	broad.mit.edu	37	19	52399819	52399819	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:52399819C>T	uc002pxy.2	-	4	412	c.144G>A	c.(142-144)GGG>GGA	p.G48G		NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	zinc finger protein 649	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CGGCTTGATACCCTGTTTGTG	0.483												
ZNF615	284370	broad.mit.edu	37	19	52497291	52497291	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:52497291A>G	uc002pye.1	-	6	1330	c.1038T>C	c.(1036-1038)TGT>TGC	p.C346C	ZNF615_uc002pyf.1_Silent_p.C357C|ZNF615_uc002pyg.1_Silent_p.C238C|ZNF615_uc002pyh.1_Silent_p.C357C|ZNF615_uc010epi.1_Silent_p.C353C|ZNF615_uc010ydg.1_Silent_p.C351C	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	346	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CACATTCACTACATATATAAG	0.408												
ZNF616	90317	broad.mit.edu	37	19	52618535	52618535	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:52618535T>C	uc002pym.2	-	4	2165	c.1882A>G	c.(1882-1884)ACC>GCC	p.T628A	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	628					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTCTCTCCGGTATGAATTCTC	0.423												
ZNF610	162963	broad.mit.edu	37	19	52869661	52869661	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:52869661T>C	uc002pyx.3	+	6	1436	c.1030T>C	c.(1030-1032)TAC>CAC	p.Y344H	ZNF610_uc002pyy.3_Missense_Mutation_p.Y344H|ZNF610_uc002pyz.3_Missense_Mutation_p.Y301H|ZNF610_uc002pza.2_Missense_Mutation_p.Y344H	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610 isoform a	344	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GGAAAAACCTTACAAATGTAA	0.393												
ZNF578	147660	broad.mit.edu	37	19	53014345	53014345	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:53014345C>T	uc002pzp.3	+	6	955	c.711C>T	c.(709-711)GGC>GGT	p.G237G		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	12	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGAGACTGGCGAAGCCTTTA	0.313												
ZNF611	81856	broad.mit.edu	37	19	53209776	53209776	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:53209776T>C	uc002pzz.2	-	7	849	c.532A>G	c.(532-534)AAT>GAT	p.N178D	ZNF611_uc010eqc.2_Missense_Mutation_p.N108D|ZNF611_uc010ydo.1_Missense_Mutation_p.N108D|ZNF611_uc010ydr.1_Missense_Mutation_p.N109D|ZNF611_uc010ydp.1_Missense_Mutation_p.N178D|ZNF611_uc010ydq.1_Missense_Mutation_p.N178D|ZNF611_uc002qaa.3_Missense_Mutation_p.N108D	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCAAGTTGATTACCAATTTCA	0.388												
ZNF468	90333	broad.mit.edu	37	19	53352409	53352409	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:53352409G>T	uc002qaf.2	-	3	224	c.73C>A	c.(73-75)CTG>ATG	p.L25M	ZNF468_uc002qae.2_Translation_Start_Site	NM_001008801	NP_001008801	Q5VIY5	ZN468_HUMAN	zinc finger protein ZNF468 isoform 2	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0358)		GCAGGGTCCAGGCATTTCCAC	0.488												
ZNF816A	125893	broad.mit.edu	37	19	53454819	53454819	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:53454819A>G	uc002qal.1	-	5	510	c.209T>C	c.(208-210)ATG>ACG	p.M70T	ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.M54T	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN	zinc finger protein 816A	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0313)		GAACTCCATCATGGATTTTAA	0.338												
ZNF347	84671	broad.mit.edu	37	19	53652530	53652530	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:53652530C>T	uc002qbb.1	-	3	175	c.106G>A	c.(106-108)GTG>ATG	p.V36M	ZNF347_uc010eql.1_Missense_Mutation_p.V36M|ZNF347_uc002qbc.1_Missense_Mutation_p.V36M	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		TCCAACATCACGTCCCTGTAC	0.493												
ZNF761	388561	broad.mit.edu	37	19	53958607	53958607	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:53958607G>A	uc010eqp.2	+	7	1304	c.846G>A	c.(844-846)ACG>ACA	p.T282T	ZNF761_uc010ydy.1_Silent_p.T228T|ZNF761_uc002qbt.1_Silent_p.T228T	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	282	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		TCAGTCAGACGTCATCCCTTA	0.413												
ZNF813	126017	broad.mit.edu	37	19	53994405	53994405	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:53994405G>A	uc002qbu.2	+	4	1047	c.919G>A	c.(919-921)GCT>ACT	p.A307T	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	307	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ATGTGACAAAGCTTTCAGTTT	0.388												
NLRP12	91662	broad.mit.edu	37	19	54301538	54301538	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:54301538A>G	uc002qch.3	-	8	3106	c.2886T>C	c.(2884-2886)GCT>GCC	p.A962A	NLRP12_uc010eqw.2_Intron|NLRP12_uc002qci.3_Intron|NLRP12_uc002qcj.3_Silent_p.A963A|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	962	LRR 5.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCAGCCCCTCAGCCAGCAACC	0.612												
CACNG8	59283	broad.mit.edu	37	19	54466598	54466598	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:54466598C>T	uc002qcs.1	+	1	305	c.199C>T	c.(199-201)CGC>TGC	p.R67C		NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	voltage-dependent calcium channel gamma-8	68					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GACCCCCCACCGCGGGGGCGG	0.706												
PRPF31	26121	broad.mit.edu	37	19	54634837	54634837	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:54634837G>A	uc002qdh.2	+	14	1870	c.1474G>A	c.(1474-1476)GAG>AAG	p.E492K	PRPF31_uc010yek.1_3'UTR	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	492					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGTCAAGGGCGAGAAGAGTGG	0.562												
LILRB5	10990	broad.mit.edu	37	19	54758829	54758829	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:54758829G>T	uc002qex.2	-	6	1135	c.1024C>A	c.(1024-1026)CTG>ATG	p.L342M	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.L333M|LILRB5_uc002qey.2_Missense_Mutation_p.L342M|LILRB5_uc002qez.2_Missense_Mutation_p.L242M|LILRB5_uc002qfa.1_Missense_Mutation_p.L232M|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	342	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGACACAGCAGGGTCACGTTC	0.567												
LILRB1	10859	broad.mit.edu	37	19	55143558	55143558	+	Silent	SNP	G	G	A	rs141734642	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:55143558G>A	uc002qgj.2	+	6	871	c.531G>A	c.(529-531)TCG>TCA	p.S177S	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.S177S|LILRB1_uc002qgk.2_Silent_p.S177S|LILRB1_uc002qgm.2_Silent_p.S177S|LILRB1_uc010erq.2_Silent_p.S177S|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	177	Ig-like C2-type 2.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		CCCGTGGGTCGTCCCGCGCCA	0.572										HNSCC(37;0.09)		
FCAR	2204	broad.mit.edu	37	19	55401040	55401040	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:55401040G>A	uc002qhr.1	+	5	872	c.675G>A	c.(673-675)ACG>ACA	p.T225T	FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Silent_p.T176T|FCAR_uc010esi.1_Silent_p.T102T|FCAR_uc002qhu.1_Silent_p.T129T|FCAR_uc002qhv.1_Silent_p.T203T|FCAR_uc002qhw.1_Silent_p.T213T|FCAR_uc002qhx.1_Silent_p.T117T|FCAR_uc002qhy.1_Silent_p.T191T|FCAR_uc002qhz.1_Missense_Mutation_p.A189T|FCAR_uc002qia.1_Silent_p.T116T	NM_002000	NP_001991	P24071	FCAR_HUMAN	Fc alpha receptor isoform a precursor	225	Extracellular (Potential).				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(193;0.0443)		ATTACACGACGCAGAACTTGA	0.527												
SAPS1	22870	broad.mit.edu	37	19	55758268	55758268	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:55758268G>A	uc002qjw.3	-	2	446	c.204C>T	c.(202-204)AGC>AGT	p.S68S	SAPS1_uc002qjv.2_Silent_p.S130S	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	SAPS domain family, member 1	68	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding				0		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GCTCCTCACCGCTATCTGGCG	0.527												
ZNF628	89887	broad.mit.edu	37	19	55994827	55994827	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:55994827G>A	uc002qld.2	+	3	2820	c.2255G>A	c.(2254-2256)CGT>CAT	p.R752H	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	752	Gly-rich.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GGGGGCGGCCGTGCAAGGCAG	0.746												
CCDC106	29903	broad.mit.edu	37	19	56160817	56160817	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:56160817C>T	uc002qlr.2	+	4	915	c.180C>T	c.(178-180)AGC>AGT	p.S60S	CCDC106_uc002qls.2_Silent_p.S60S	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	60						nucleus					0		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGATGAACAGCGTCAAGACCC	0.652												
NLRP13	126204	broad.mit.edu	37	19	56424302	56424302	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:56424302G>A	uc010ygg.1	-	5	906	c.881C>T	c.(880-882)GCC>GTC	p.A294V		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	294	NACHT.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTCAATGGGGGCATCAAAATC	0.403												
ZNF667	63934	broad.mit.edu	37	19	56952902	56952902	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:56952902G>A	uc002qnd.2	-	5	1624	c.1462C>T	c.(1462-1464)CGA>TGA	p.R488*	ZNF667_uc010etl.2_Nonsense_Mutation_p.R270*|ZNF667_uc002qne.2_Nonsense_Mutation_p.R488*|ZNF667_uc010etm.2_Nonsense_Mutation_p.R431*	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	488	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CTCTTATGTCGTGTGAGAGAT	0.428												
ZFP28	140612	broad.mit.edu	37	19	57065374	57065374	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:57065374T>C	uc002qnj.2	+	8	1291	c.1220T>C	c.(1219-1221)GTA>GCA	p.V407A	uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGTTCAGTGGTAATAAAACAA	0.323												
ZFP28	140612	broad.mit.edu	37	19	57065512	57065512	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:57065512G>A	uc002qnj.2	+	8	1429	c.1358G>A	c.(1357-1359)TGT>TAT	p.C453Y	uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	453	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TGTAATGAATGTGGGAAGGCC	0.423												
ZIM2	23619	broad.mit.edu	37	19	57293379	57293379	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:57293379A>G	uc002qnr.2	-	9	970	c.588T>C	c.(586-588)GCT>GCC	p.A196A	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnq.2_Silent_p.A196A|ZIM2_uc010etp.2_Silent_p.A196A|ZIM2_uc010ygs.1_Silent_p.A196A	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	196	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GGTTTCTCTGAGCAGCACTAA	0.498												
PEG3	5178	broad.mit.edu	37	19	57327157	57327157	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:57327157C>A	uc002qnu.2	-	7	3004	c.2653G>T	c.(2653-2655)GGC>TGC	p.G885C	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G856C|PEG3_uc002qnv.2_Missense_Mutation_p.G885C|PEG3_uc002qnw.2_Missense_Mutation_p.G761C|PEG3_uc002qnx.2_Missense_Mutation_p.G759C|PEG3_uc010etr.2_Missense_Mutation_p.G885C	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	885					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCTTACTGCCCCCTTCACAA	0.438												
ZNF17	7565	broad.mit.edu	37	19	57932053	57932053	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:57932053G>A	uc002qoo.1	+	3	1424	c.1193G>A	c.(1192-1194)CGT>CAT	p.R398H	ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Missense_Mutation_p.R400H	NM_006959	NP_008890	P17021	ZNF17_HUMAN	zinc finger protein 17	398	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TTTAGATACCGTTCCACACTC	0.383												
ZNF749	388567	broad.mit.edu	37	19	57956001	57956001	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:57956001G>T	uc002qoq.2	+	3	1739	c.1485G>T	c.(1483-1485)CAG>CAT	p.Q495H	ZNF547_uc002qpm.3_Intron	NM_001023561	NP_001018855	O43361	ZN749_HUMAN	zinc finger protein 749	495	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TCCTTACACAGGCTCATCTGG	0.458												
ZNF419	79744	broad.mit.edu	37	19	58005046	58005046	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:58005046G>T	uc002qov.2	+	5	1361	c.1121G>T	c.(1120-1122)AGC>ATC	p.S374I	ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.S375I|ZNF419_uc010etz.1_Missense_Mutation_p.S362I|ZNF419_uc010eua.1_Missense_Mutation_p.S361I|ZNF419_uc002qow.2_Missense_Mutation_p.S342I|ZNF419_uc010eub.1_Missense_Mutation_p.S329I|ZNF419_uc010euc.1_Missense_Mutation_p.S328I	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN	zinc finger protein 419 isoform 2	374	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TACAAGTGCAGCGACTGTGGG	0.413												
ZNF154	7710	broad.mit.edu	37	19	58213466	58213466	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:58213466T>C	uc010euf.2	-	3	1091	c.851A>G	c.(850-852)TAT>TGT	p.Y284C	ZNF776_uc002qpx.2_Intron|ZNF154_uc002qpy.2_RNA	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN	zinc finger protein 154	284	C2H2-type 7.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACTGGAATGATATGTAAAAAA	0.458												
ZNF587	84914	broad.mit.edu	37	19	58371388	58371388	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:58371388T>C	uc002qql.2	+	3	1746	c.1608T>C	c.(1606-1608)ATT>ATC	p.I536I	ZNF587_uc002qqb.2_Silent_p.I493I|ZNF587_uc010yhh.1_Silent_p.I493I|ZNF587_uc002qqi.1_Silent_p.I493I|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Silent_p.I535I	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	536	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		CCAGTCTCATTAAACACAGGA	0.413												
ZNF256	10172	broad.mit.edu	37	19	58453484	58453484	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:58453484C>A	uc002qqu.2	-	3	927	c.692G>T	c.(691-693)GGA>GTA	p.G231V	ZNF256_uc010euj.2_Missense_Mutation_p.G78V	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	231					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		AATGAGGTCTCCCTGGTGCTG	0.428												
ZNF497	162968	broad.mit.edu	37	19	58868129	58868129	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:58868129C>T	uc002qsh.1	-	3	1062	c.873G>A	c.(871-873)CAG>CAA	p.Q291Q	A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Silent_p.Q291Q|uc002qsj.1_5'Flank|uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	291	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TGCGCCGGTGCTGCCGCAGCC	0.706												
KIDINS220	57498	broad.mit.edu	37	2	8943209	8943209	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:8943209A>G	uc002qzc.2	-	8	834	c.652T>C	c.(652-654)TCA>CCA	p.S218P	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.S176P|KIDINS220_uc010yiw.1_Missense_Mutation_p.S219P	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	218	ANK 7.|Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTTTTACTGACTGTGTGTAA	0.343												
ASAP2	8853	broad.mit.edu	37	2	9437478	9437478	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:9437478C>T	uc002qzh.2	+	3	589	c.249C>T	c.(247-249)GGC>GGT	p.G83G	ASAP2_uc002qzi.2_Silent_p.G83G	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	83					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						AGAAGTTTGGCGGCAACTGTG	0.488												
ODC1	4953	broad.mit.edu	37	2	10581970	10581970	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:10581970G>A	uc010exg.1	-	10	1433	c.999C>T	c.(997-999)CAC>CAT	p.H333H	ODC1_uc002ran.1_Silent_p.H19H|ODC1_uc002rao.1_Silent_p.H333H|ODC1_uc010yjd.1_Silent_p.H203H	NM_002539	NP_002530	P11926	DCOR_HUMAN	ornithine decarboxylase 1	333					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	TTACATGTGCGTGGTCATAGA	0.393												
WDR35	57539	broad.mit.edu	37	2	20188933	20188933	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:20188933C>T	uc002rdi.2	-	2	243	c.135G>A	c.(133-135)ACG>ACA	p.T45T	WDR35_uc002rdj.2_Silent_p.T45T|WDR35_uc010ext.2_RNA	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	45	WD 1.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACCTGTCTGCGTCTCTAATT	0.413												
HS1BP3	64342	broad.mit.edu	37	2	20824508	20824508	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:20824508G>A	uc002rdw.1	-	5	809	c.768C>T	c.(766-768)GAC>GAT	p.D256D		NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	256					cell communication		phosphatidylinositol binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGATGACACGTCCTCCGAGG	0.657												
APOB	338	broad.mit.edu	37	2	21234835	21234835	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:21234835T>G	uc002red.2	-	26	5033	c.4905A>C	c.(4903-4905)AAA>AAC	p.K1635N		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1635					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACTATTAATTTTGTCAGTGC	0.448												
APOB	338	broad.mit.edu	37	2	21255259	21255259	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:21255259G>A	uc002red.2	-	10	1447	c.1319C>T	c.(1318-1320)GCC>GTC	p.A440V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	440	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATACAAGGTGGCTCGGCTGCG	0.567												
POMC	5443	broad.mit.edu	37	2	25384367	25384367	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:25384367C>T	uc002rfy.1	-	4	650	c.387G>A	c.(385-387)AAG>AAA	p.K129K	POMC_uc002rfz.1_Silent_p.K129K|POMC_uc002rga.1_Silent_p.K129K	NM_001035256	NP_001030333	P01189	COLI_HUMAN	proopiomelanocortin preproprotein	129					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GCGGGCCCGGCTTGGCACCAT	0.677												
ASXL2	55252	broad.mit.edu	37	2	25965028	25965028	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:25965028A>G	uc002rgs.2	-	12	4399	c.4178T>C	c.(4177-4179)ATA>ACA	p.I1393T	ASXL2_uc002rgt.1_Missense_Mutation_p.I876T	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	1393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGCCCTCTATGCTGTTCTC	0.522												
C2orf39	92749	broad.mit.edu	37	2	26654771	26654771	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:26654771G>A	uc002rhg.2	+	7	859	c.785G>A	c.(784-786)CGC>CAC	p.R262H	C2orf39_uc010eym.1_RNA	NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	262	Potential.										0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTAACAACCGCATGAAGAAA	0.493												
KCNK3	3777	broad.mit.edu	37	2	26950678	26950678	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:26950678G>A	uc002rhn.2	+	2	590	c.427G>A	c.(427-429)GCC>ACC	p.A143T		NM_002246	NP_002237	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	143	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCACCGCGCCAAGAAGGG	0.647												
C2orf18	54978	broad.mit.edu	37	2	26999331	26999331	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:26999331G>A	uc002rhp.1	+	5	703	c.627G>A	c.(625-627)CTG>CTA	p.L209L	C2orf18_uc002rhq.1_Silent_p.L126L|C2orf18_uc010eyo.1_Silent_p.L156L|C2orf18_uc010ylc.1_Intron	NM_017877	NP_060347	Q8N357	CB018_HUMAN	ANT2-binding protein precursor	209						integral to membrane|lysosomal membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCACCCACTGCGGGCAGTTG	0.587												
DPYSL5	56896	broad.mit.edu	37	2	27121383	27121383	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:27121383G>A	uc002rhu.3	+	2	174	c.16G>A	c.(16-18)GCC>ACC	p.A6T	DPYSL5_uc002rhv.3_Missense_Mutation_p.A6T	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	6					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCAACTCAGCCAGCGTGAG	0.527												
DPYSL5	56896	broad.mit.edu	37	2	27169837	27169837	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:27169837G>A	uc002rhu.3	+	13	1827	c.1669G>A	c.(1669-1671)GGA>AGA	p.G557R	DPYSL5_uc002rhv.3_Missense_Mutation_p.G557R	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	557					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTCCTCCCGGAGGCAGGTC	0.627												
SLC5A6	8884	broad.mit.edu	37	2	27428246	27428246	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:27428246A>G	uc002rjd.2	-	7	1097	c.706T>C	c.(706-708)TCC>CCC	p.S236P	SLC5A6_uc010eyv.1_Missense_Mutation_p.S236P	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	236					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CCGTGCTGGGAAGCCACGGCC	0.612												
ZNF512	84450	broad.mit.edu	37	2	27844169	27844169	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:27844169C>T	uc002rla.2	+	14	1632	c.1545C>T	c.(1543-1545)CCC>CCT	p.P515P	ZNF512_uc010ylv.1_Silent_p.P436P|ZNF512_uc010ylw.1_Silent_p.P486P|ZNF512_uc002rlb.2_Silent_p.P436P|ZNF512_uc010ylx.1_Silent_p.P436P|ZNF512_uc002rlc.2_Silent_p.P436P|ZNF512_uc010yly.1_Intron|ZNF512_uc010ylz.1_Silent_p.P408P	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	zinc finger protein 512	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TTGAGCTTCCCGAGACAGAGC	0.537												
GALNT14	79623	broad.mit.edu	37	2	31167736	31167736	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:31167736G>A	uc002rnr.2	-	8	1434	c.815C>T	c.(814-816)ACG>ATG	p.T272M	GALNT14_uc002rnq.2_Missense_Mutation_p.T252M|GALNT14_uc002rns.2_Missense_Mutation_p.T277M|GALNT14_uc010ymr.1_Missense_Mutation_p.T237M|GALNT14_uc010ezo.1_Missense_Mutation_p.T239M|GALNT14_uc010ezp.1_Intron	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	272	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					GATGGGCTCCGTGGGGTCCAG	0.582												
BIRC6	57448	broad.mit.edu	37	2	32704595	32704595	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:32704595G>A	uc010ezu.2	+	37	7452	c.7318G>A	c.(7318-7320)GCG>ACG	p.A2440T		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2440					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGATGTAGGTGCGACAGCTGG	0.443												
TTC27	55622	broad.mit.edu	37	2	32865440	32865440	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:32865440T>C	uc002rom.2	+	4	731	c.500T>C	c.(499-501)ATC>ACC	p.I167T	TTC27_uc010ymx.1_Missense_Mutation_p.I117T	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	167							protein binding			central_nervous_system(1)	1						GCACGCATTATCCTAGTGAAT	0.418												
TTC27	55622	broad.mit.edu	37	2	32889536	32889536	+	Splice_Site	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:32889536T>C	uc002rom.2	+	6	1036	c.805_splice	c.e6+2	p.G269_splice	TTC27_uc010ymx.1_Splice_Site_p.G219_splice	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27								protein binding			central_nervous_system(1)	1						ATTTGACAGGTAAGACTTATT	0.264												
VIT	5212	broad.mit.edu	37	2	37035867	37035867	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:37035867C>T	uc002rpl.2	+	15	1863	c.1642C>T	c.(1642-1644)CGC>TGC	p.R548C	VIT_uc002rpm.2_Missense_Mutation_p.R526C|VIT_uc010ezv.2_Missense_Mutation_p.R504C|VIT_uc010ezw.2_Missense_Mutation_p.R505C	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	533	VWFA 2.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				CACGGACACGCGCATCGGGGC	0.587												
HEATR5B	54497	broad.mit.edu	37	2	37267563	37267563	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:37267563C>T	uc002rpp.1	-	20	3051	c.2955G>A	c.(2953-2955)CTG>CTA	p.L985L		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	985							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				GAACTGTCAACAGCAAGGTAA	0.428												
CDKL4	344387	broad.mit.edu	37	2	39440547	39440547	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:39440547T>C	uc002rrm.2	-	3	357	c.357A>G	c.(355-357)ATA>ATG	p.I119M	CDKL4_uc010fal.1_Missense_Mutation_p.I119M	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	119	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			ovary(1)	1		all_hematologic(82;0.248)				TTACGTTATGTATATGACAGA	0.323												
ZFP36L2	678	broad.mit.edu	37	2	43452855	43452855	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:43452855T>C	uc002rsv.3	-	2	379	c.88A>G	c.(88-90)ATG>GTG	p.M30V	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	30					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TTGTCCAGCATGTTGTTCAGG	0.647												
SIX3	6496	broad.mit.edu	37	2	45170049	45170049	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:45170049G>T	uc002run.1	+	1	1013	c.806G>T	c.(805-807)AGG>ATG	p.R269M		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	269					visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCCAAGAACAGGTTAGTGGCG	0.682												
PRKCE	5581	broad.mit.edu	37	2	46228616	46228616	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:46228616C>T	uc002rut.2	+	7	1094	c.897C>T	c.(895-897)ATC>ATT	p.I299I		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	299					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CCAGAGGAATCGCCAAAGTAC	0.522												
NRXN1	9378	broad.mit.edu	37	2	50779787	50779787	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:50779787A>G	uc010fbq.2	-	9	3294	c.1817T>C	c.(1816-1818)CTG>CCG	p.L606P	NRXN1_uc002rxb.3_Missense_Mutation_p.L238P|NRXN1_uc002rxe.3_Missense_Mutation_p.L566P|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTTCTTCAACAGGGCTTTTAT	0.433												
CHAC2	494143	broad.mit.edu	37	2	53999066	53999066	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:53999066T>G	uc002rxk.1	+	2	253	c.158T>G	c.(157-159)GTT>GGT	p.V53G	ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron	NM_001008708	NP_001008708	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator-like 2	53											0			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTGACTCTTGTTGAAGATCCT	0.259												
CHAC2	494143	broad.mit.edu	37	2	53999076	53999076	+	Silent	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:53999076T>A	uc002rxk.1	+	2	263	c.168T>A	c.(166-168)CCT>CCA	p.P56P	ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron	NM_001008708	NP_001008708	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator-like 2	56											0			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTGAAGATCCTGCGGTATGGt	0.264												
ERLEC1	27248	broad.mit.edu	37	2	54041678	54041678	+	Splice_Site	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:54041678A>G	uc002rxl.2	+	12	1507	c.1227_splice	c.e12-2	p.R409_splice	ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Intron|ERLEC1_uc002rxn.2_Splice_Site_p.R355_splice	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	erlectin isoform 1						ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			ovary(2)	2						TCTCTGATTCAGGATGGTGTC	0.333												
SPTBN1	6711	broad.mit.edu	37	2	54853120	54853120	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:54853120G>A	uc002rxu.2	+	12	1642	c.1393G>A	c.(1393-1395)GAG>AAG	p.E465K	SPTBN1_uc002rxv.1_Missense_Mutation_p.E465K|SPTBN1_uc002rxx.2_Missense_Mutation_p.E452K	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	465	Spectrin 2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			AAAAAAGCACGAGGCCATTGA	0.502												
SPTBN1	6711	broad.mit.edu	37	2	54858335	54858335	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:54858335C>A	uc002rxu.2	+	16	3400	c.3151C>A	c.(3151-3153)CTG>ATG	p.L1051M	SPTBN1_uc002rxx.2_Missense_Mutation_p.L1038M	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1051	Spectrin 8.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GAAGACCACCCTGAAAAACCG	0.637												
SPTBN1	6711	broad.mit.edu	37	2	54870189	54870189	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:54870189C>T	uc002rxu.2	+	19	4177	c.3928C>T	c.(3928-3930)CAC>TAC	p.H1310Y	SPTBN1_uc002rxx.2_Missense_Mutation_p.H1297Y	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1310	Spectrin 10.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CAGAAATCTGCACAGTAAATG	0.418												
MTIF2	4528	broad.mit.edu	37	2	55476655	55476655	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:55476655G>A	uc002ryn.2	-	10	1594	c.857C>T	c.(856-858)GCC>GTC	p.A286V	MTIF2_uc010yox.1_5'UTR|MTIF2_uc002ryo.2_Missense_Mutation_p.A286V	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	286	G-domain.				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1						TTTATTTACGGCAAGGATAAT	0.383												
SMEK2	57223	broad.mit.edu	37	2	55795445	55795445	+	Missense_Mutation	SNP	C	C	T	rs143018045	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:55795445C>T	uc002rzc.2	-	13	2195	c.1820G>A	c.(1819-1821)CGT>CAT	p.R607H	SMEK2_uc002rzb.2_Missense_Mutation_p.R522H|SMEK2_uc002rzd.2_Missense_Mutation_p.R575H|SMEK2_uc002ryz.2_Missense_Mutation_p.R41H|SMEK2_uc002rza.2_Missense_Mutation_p.R398H	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 isoform 1	607						microtubule organizing center|nucleus	protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGTGATGTAACGATTATAAAA	0.318												
BCL11A	53335	broad.mit.edu	37	2	60689070	60689070	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:60689070G>A	uc002sae.1	-	4	1205	c.977C>T	c.(976-978)ACG>ATG	p.T326M	BCL11A_uc002sab.2_Missense_Mutation_p.T326M|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.T292M|BCL11A_uc002sad.1_Missense_Mutation_p.T174M|BCL11A_uc002saf.1_Missense_Mutation_p.T292M	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	326	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGGGCTAGACGTGTTCCCTGC	0.617			T	IGH@	B-CLL							
PAPOLG	64895	broad.mit.edu	37	2	60995614	60995614	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:60995614C>T	uc002sai.2	+	4	487	c.256C>T	c.(256-258)CCT>TCT	p.P86S	PAPOLG_uc002saj.2_5'UTR|PAPOLG_uc002sak.2_5'UTR	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	86					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			GAACCTCCCACCTTCTGTTGT	0.318												
USP34	9736	broad.mit.edu	37	2	61522168	61522168	+	Splice_Site	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:61522168C>A	uc002sbe.2	-	32	4400	c.4378_splice	c.e32-1	p.G1460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34						positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			TGTAACTTCCCTATGAGAAAG	0.338												
EHBP1	23301	broad.mit.edu	37	2	63092086	63092086	+	Silent	SNP	T	T	C	rs145903425		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:63092086T>C	uc002sby.2	+	10	1565	c.1083T>C	c.(1081-1083)ACT>ACC	p.T361T	EHBP1_uc010fcp.2_Silent_p.T326T|EHBP1_uc002sbx.2_Silent_p.T326T|EHBP1_uc002sbz.2_Silent_p.T326T|EHBP1_uc002scb.2_Silent_p.T326T	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	361						cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GTTCTAAAACTGAAGAAGAAG	0.348									Hereditary_Prostate_Cancer			
GFPT1	2673	broad.mit.edu	37	2	69581630	69581630	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:69581630A>G	uc002sfh.2	-	8	855	c.676T>C	c.(676-678)TAC>CAC	p.Y226H	GFPT1_uc002sfi.1_Missense_Mutation_p.Y68H	NM_002056	NP_002047	Q06210	GFPT1_HUMAN	glucosamine-fructose-6-phosphate	226	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			skin(1)	1						CCTGTTCTGTAGAGTATAGGA	0.373												
MXD1	4084	broad.mit.edu	37	2	70143292	70143292	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:70143292A>G	uc002sfy.2	+	2	373	c.113A>G	c.(112-114)AAC>AGC	p.N38S	MXD1_uc010yqp.1_Missense_Mutation_p.N38S|MXD1_uc010yqq.1_5'UTR|MXD1_uc010yqr.1_RNA|MXD1_uc010yqs.1_Missense_Mutation_p.N38S	NM_002357	NP_002348	Q05195	MAD1_HUMAN	MAX dimerization protein 1	38	Nuclear localization signal (Potential).				cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						CCATACAATAACAAGGACAGA	0.373												
NAGK	55577	broad.mit.edu	37	2	71297876	71297876	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:71297876C>T	uc002shp.3	+	3	526	c.120C>T	c.(118-120)ATC>ATT	p.I40I	NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_5'UTR|NAGK_uc002shr.2_5'UTR	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN	N-Acetylglucosamine kinase	40					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding				0					N-Acetyl-D-glucosamine(DB00141)	GCCAGCTGATCGGGACAGACA	0.552											OREG0014689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CYP26B1	56603	broad.mit.edu	37	2	72371142	72371142	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:72371142G>A	uc002sih.1	-	2	405	c.405C>T	c.(403-405)GGC>GGT	p.G135G	CYP26B1_uc010yra.1_Silent_p.G118G|CYP26B1_uc010yrb.1_Intron	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	135					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			skin(2)	2						GGTGGATGTCGCCAATGGAAT	0.393												
FBXO41	150726	broad.mit.edu	37	2	73491645	73491645	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:73491645G>A	uc002sjb.1	-	6	1750	c.1750C>T	c.(1750-1752)CGC>TGC	p.R584C		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	523	F-box.					intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						CCCTCGGGGCGGGCTGCAGAA	0.632												
C2orf78	388960	broad.mit.edu	37	2	74042616	74042616	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:74042616C>T	uc002sjr.1	+	3	1387	c.1266C>T	c.(1264-1266)AGC>AGT	p.S422S		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	422										ovary(2)	2						GAAATAAGAGCCTGAGTCTTG	0.483												
RETSAT	54884	broad.mit.edu	37	2	85578126	85578126	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:85578126C>T	uc002spd.2	-	3	565	c.374G>A	c.(373-375)CGT>CAT	p.R125H	RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Missense_Mutation_p.R64H|RETSAT_uc010fgf.2_Intron	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	125					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			ovary(2)	2					Vitamin A(DB00162)	CTCTTCCATACGCCCAATGTA	0.512												
C2orf68	388969	broad.mit.edu	37	2	85838877	85838877	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:85838877G>A	uc002sqc.2	-	2	212	c.140C>T	c.(139-141)GCC>GTC	p.A47V	USP39_uc002sqb.2_Intron|USP39_uc010ysu.1_5'Flank|USP39_uc010ysv.1_5'Flank|C2orf68_uc002sqd.2_Missense_Mutation_p.A47V	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN	hypothetical protein LOC388969	47										central_nervous_system(1)	1						CTTCTCCTTGGCCGCCTGCTT	0.726												
IMMT	10989	broad.mit.edu	37	2	86371633	86371633	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:86371633C>A	uc002sqz.3	-	15	2423	c.2035G>T	c.(2035-2037)GAG>TAG	p.E679*	IMMT_uc002sqy.3_Nonsense_Mutation_p.E420*|IMMT_uc002srb.3_Nonsense_Mutation_p.E668*|IMMT_uc002sra.3_Nonsense_Mutation_p.E678*|IMMT_uc010ytd.1_Nonsense_Mutation_p.E667*|IMMT_uc010yte.1_Nonsense_Mutation_p.E632*	NM_006839	NP_006830	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial isoform 1	679	Mitochondrial intermembrane (Potential).					integral to mitochondrial inner membrane	protein binding			skin(1)	1						GGGCAGAGCTCTGGGGGCGGC	0.453												
KDM3A	55818	broad.mit.edu	37	2	86716503	86716503	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:86716503G>A	uc002sri.3	+	22	3703	c.3376G>A	c.(3376-3378)GCA>ACA	p.A1126T	KDM3A_uc010ytj.1_Missense_Mutation_p.A1126T|KDM3A_uc010ytk.1_Missense_Mutation_p.A1074T	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	1126	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						TGTATCTGATGCAGCTAATGT	0.408												
TEKT4	150483	broad.mit.edu	37	2	95541445	95541445	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:95541445A>G	uc002stw.1	+	5	1142	c.1049A>G	c.(1048-1050)CAC>CGC	p.H350R	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	350					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						CTGCGCTCGCACCGGCCCAAC	0.637												
PROM2	150696	broad.mit.edu	37	2	95950790	95950790	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:95950790C>T	uc002suh.1	+	15	1935	c.1802C>T	c.(1801-1803)GCC>GTC	p.A601V	PROM2_uc002sui.2_Missense_Mutation_p.A601V|PROM2_uc002suj.2_Missense_Mutation_p.A255V|PROM2_uc002suk.2_Missense_Mutation_p.A601V|PROM2_uc002sul.2_Missense_Mutation_p.A127V|PROM2_uc002sum.2_Intron	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	601	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						CTGAGCTCAGCCGCCCGCCGG	0.637												
ASTL	431705	broad.mit.edu	37	2	96795819	96795819	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:96795819C>T	uc010yui.1	-	7	703	c.703G>A	c.(703-705)GTG>ATG	p.V235M		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	235					proteolysis		metalloendopeptidase activity|zinc ion binding				0						TAGTGCATCACAGAGGAGTAG	0.498												
DUSP2	1844	broad.mit.edu	37	2	96809592	96809592	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:96809592C>T	uc002svk.3	-	4	1001	c.915G>A	c.(913-915)CTG>CTA	p.L305L		NM_004418	NP_004409	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	305					endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			breast(1)	1		Ovarian(717;0.0228)				TCTCAAACTGCAGCAGCTGCC	0.632												
LOC285033	285033	broad.mit.edu	37	2	96906238	96906238	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:96906238G>T	uc002svp.1	+	1	262	c.177G>T	c.(175-177)CAG>CAT	p.Q59H	LOC285033_uc002svn.2_RNA|LOC285033_uc002svo.2_Missense_Mutation_p.Q136H	NM_001037228	NP_001032305	Q3KRF4	Q3KRF4_HUMAN	hypothetical protein LOC285033	59											0						ACTCTTCTCAGGACCAGATCC	0.537												
LOC285033	285033	broad.mit.edu	37	2	96906418	96906418	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:96906418C>A	uc002svp.1	+	1	442	c.357C>A	c.(355-357)CCC>CCA	p.P119P	LOC285033_uc002svn.2_RNA|LOC285033_uc002svo.2_Silent_p.P196P	NM_001037228	NP_001032305	Q3KRF4	Q3KRF4_HUMAN	hypothetical protein LOC285033	119											0						CCTTCCTTCCCTGCAGTTGGT	0.552												
KIAA1310	55683	broad.mit.edu	37	2	97274639	97274639	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:97274639G>A	uc002swn.3	-	13	1692	c.1546C>T	c.(1546-1548)CCA>TCA	p.P516S	KIAA1310_uc002swh.3_Missense_Mutation_p.P404S|KIAA1310_uc002swi.3_Missense_Mutation_p.P417S|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.P429S|KIAA1310_uc010fhz.2_Missense_Mutation_p.P310S|KIAA1310_uc002swl.3_Missense_Mutation_p.P417S|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Missense_Mutation_p.P310S|KIAA1310_uc002swp.1_Missense_Mutation_p.P417S	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN	hypothetical protein LOC55683 isoform a	516											0						TTGGCAGCTGGGGAGGCAGGT	0.612												
SEMA4C	54910	broad.mit.edu	37	2	97527106	97527106	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:97527106G>A	uc002sxh.3	-	15	1919	c.1759C>T	c.(1759-1761)CGC>TGC	p.R587C	SEMA4C_uc002sxf.3_Missense_Mutation_p.R87C|SEMA4C_uc002sxe.2_Missense_Mutation_p.R128C|SEMA4C_uc002sxg.3_Missense_Mutation_p.R640C	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C precursor	587	Extracellular (Potential).|Ig-like C2-type.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			skin(2)	2						AAGGTCCAGCGGGCATGGGCC	0.672												
ACTR1B	10120	broad.mit.edu	37	2	98275411	98275411	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:98275411G>A	uc002syb.2	-	5	579	c.371C>T	c.(370-372)GCG>GTG	p.A124V		NM_005735	NP_005726	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B,	124						centrosome|dynactin complex	ATP binding|protein binding			skin(1)	1						CACCTCTGCCGCCTTCTCCCG	0.607												
TMEM131	23505	broad.mit.edu	37	2	98430732	98430732	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:98430732A>G	uc002syh.3	-	14	1641	c.1412T>C	c.(1411-1413)GTG>GCG	p.V471A	TMEM131_uc010yvg.1_RNA	NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	471						integral to membrane				ovary(4)|central_nervous_system(2)	6						TGGTAGCAACACATCGTGAAT	0.428												
C2orf55	343990	broad.mit.edu	37	2	99413865	99413865	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:99413865C>T	uc002szf.1	-	8	2846	c.2552G>A	c.(2551-2553)CGG>CAG	p.R851Q		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	851											0						CTTCAGGGTCCGTGCCCCAGG	0.622												
EIF5B	9669	broad.mit.edu	37	2	100009432	100009432	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:100009432C>T	uc002tab.2	+	18	2935	c.2751C>T	c.(2749-2751)AAC>AAT	p.N917N	EIF5B_uc010yvq.1_5'Flank	NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	917					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						CTCTGTAGAACCAGTATGAAA	0.303												
AFF3	3899	broad.mit.edu	37	2	100210468	100210468	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:100210468G>A	uc002tag.2	-	14	1891	c.1655C>T	c.(1654-1656)GCG>GTG	p.A552V	AFF3_uc002taf.2_Missense_Mutation_p.A577V|AFF3_uc010fiq.1_Missense_Mutation_p.A552V|AFF3_uc010yvr.1_Missense_Mutation_p.A705V|AFF3_uc002tah.1_Missense_Mutation_p.A577V	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	552					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						GGCCACGGCCGCGGGCGGGGA	0.701												
C2orf29	55571	broad.mit.edu	37	2	101869670	101869670	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:101869670G>A	uc002taw.3	+	1	326	c.244G>A	c.(244-246)GGC>AGC	p.G82S		NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN	hypothetical protein LOC55571	82					cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GGCGGGCGGCGGCAGCACCTT	0.542												
SLC9A4	389015	broad.mit.edu	37	2	103125352	103125352	+	Missense_Mutation	SNP	C	C	A	rs151304810		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:103125352C>A	uc002tbz.3	+	6	1905	c.1448C>A	c.(1447-1449)ACC>AAC	p.T483N		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	483	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						GTTAAAAAAACCAATAAAAAA	0.353												
ST6GAL2	84620	broad.mit.edu	37	2	107459975	107459975	+	Silent	SNP	G	G	C	rs142520495		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:107459975G>C	uc002tdq.2	-	2	578	c.459C>G	c.(457-459)CCC>CCG	p.P153P	ST6GAL2_uc002tdr.2_Silent_p.P153P|ST6GAL2_uc002tds.3_Silent_p.P153P	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	153	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						CTGGCTCCCCGGGGGAAGGGA	0.622												
SLC5A7	60482	broad.mit.edu	37	2	108627289	108627289	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:108627289G>T	uc002tdv.2	+	9	1991	c.1715G>T	c.(1714-1716)GGG>GTG	p.G572V	SLC5A7_uc010ywm.1_Missense_Mutation_p.G325V|SLC5A7_uc010fjj.2_Missense_Mutation_p.G572V|SLC5A7_uc010ywn.1_Missense_Mutation_p.G459V	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	572	Cytoplasmic (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	AGTCCAGAAGGGTCTGGGACT	0.428												
SULT1C3	442038	broad.mit.edu	37	2	108863760	108863760	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:108863760A>G	uc010ywo.1	+	1	110	c.110A>G	c.(109-111)GAA>GGA	p.E37G		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member	37						cytoplasm	alcohol sulfotransferase activity			skin(1)	1						GAATGGTGGGAAAAAGTATGT	0.363												
SULT1C2	6819	broad.mit.edu	37	2	108917317	108917317	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:108917317C>T	uc002tdy.2	+	4	754	c.301C>T	c.(301-303)CCC>TCC	p.P101S	SULT1C2_uc010ywp.1_Intron|SULT1C2_uc002tdx.2_Intron|SULT1C2_uc010ywq.1_Missense_Mutation_p.P115S	NM_001056	NP_001047	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 1	101					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			ovary(1)	1						CAAAGCAATGCCCTCTCCACG	0.488												
MALL	7851	broad.mit.edu	37	2	110849315	110849315	+	Silent	SNP	G	G	A	rs138070360	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:110849315G>A	uc002tfk.2	-	2	912	c.138C>T	c.(136-138)GCC>GCT	p.A46A	MALL_uc010fju.2_Intron	NM_005434	NP_005425	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	46	MARVEL.				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding			ovary(1)|skin(1)	2				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		TGTGGGTGGCGGCTACCATGG	0.463												
PSD4	23550	broad.mit.edu	37	2	113940629	113940629	+	Missense_Mutation	SNP	C	C	T	rs145372882		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:113940629C>T	uc002tjc.2	+	2	779	c.596C>T	c.(595-597)ACG>ATG	p.T199M	PSD4_uc002tjd.2_Translation_Start_Site|PSD4_uc002tje.2_Missense_Mutation_p.T198M|PSD4_uc002tjf.2_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	199					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						CCCGGGGACACGGGCCTGCAC	0.637												
PSD4	23550	broad.mit.edu	37	2	113950909	113950909	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:113950909G>A	uc002tjc.2	+	8	2177	c.1994G>A	c.(1993-1995)CGC>CAC	p.R665H	PSD4_uc002tjd.2_Missense_Mutation_p.R286H|PSD4_uc002tje.2_Missense_Mutation_p.R636H|PSD4_uc002tjf.2_Missense_Mutation_p.R286H	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	665	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						TTCTCCAGACGCTTCCACCAT	0.597												
STEAP3	55240	broad.mit.edu	37	2	120020822	120020822	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:120020822G>A	uc002tlp.2	+	6	1532	c.1375G>A	c.(1375-1377)GCC>ACC	p.A459T	STEAP3_uc002tlq.2_Missense_Mutation_p.A469T|STEAP3_uc002tlr.2_Missense_Mutation_p.A459T|STEAP3_uc010fle.2_3'UTR	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	459	Cytoplasmic (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						CCGCAGACTCGCCAGGATCCG	0.637												
INHBB	3625	broad.mit.edu	37	2	121107172	121107172	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:121107172G>A	uc002tmn.2	+	2	992	c.946G>A	c.(946-948)GGC>AGC	p.G316S		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	316					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)				CCGCCTCATCGGCTGGAACGA	0.632												
GLI2	2736	broad.mit.edu	37	2	121728140	121728140	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:121728140C>T	uc010flp.2	+	6	1047	c.1017C>T	c.(1015-1017)ACC>ACT	p.T339T	GLI2_uc002tmq.1_Silent_p.T11T|GLI2_uc002tmr.1_Silent_p.T11T|GLI2_uc002tmt.3_Silent_p.T11T|GLI2_uc002tmu.3_Silent_p.T11T|GLI2_uc002tmv.1_Missense_Mutation_p.P210S|GLI2_uc010flo.1_Silent_p.T214T|GLI2_uc002tmw.1_Silent_p.T339T	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	339					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				CCACGCCCACCCAGCTCAGCA	0.622												
BIN1	274	broad.mit.edu	37	2	127821515	127821515	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:127821515C>T	uc002tns.1	-	8	1037	c.692G>A	c.(691-693)TGG>TAG	p.W231*	BIN1_uc010yzf.1_Nonsense_Mutation_p.W176*|BIN1_uc010yzg.1_Nonsense_Mutation_p.W231*|BIN1_uc002tnu.1_Nonsense_Mutation_p.W200*|BIN1_uc002toa.1_Nonsense_Mutation_p.W200*|BIN1_uc002tnt.1_Nonsense_Mutation_p.W200*|BIN1_uc002tnv.1_Nonsense_Mutation_p.W231*|BIN1_uc002tnw.1_Nonsense_Mutation_p.W200*|BIN1_uc002tnx.1_Nonsense_Mutation_p.W200*|BIN1_uc002tny.1_Nonsense_Mutation_p.W231*|BIN1_uc002tnz.1_Nonsense_Mutation_p.W200*|BIN1_uc002tob.1_Nonsense_Mutation_p.W200*|BIN1_uc002toc.1_Nonsense_Mutation_p.W200*	NM_139343	NP_647593	O00499	BIN1_HUMAN	bridging integrator 1 isoform 1	231	BAR.|Potential.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				ovary(2)|central_nervous_system(2)|skin(2)|lung(1)	7	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCACCTGTTCCACAGGGACGG	0.652												
SAP130	79595	broad.mit.edu	37	2	128770681	128770681	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:128770681G>A	uc002tpp.2	-	6	877	c.745C>T	c.(745-747)CTG>TTG	p.L249L	SAP130_uc002tpn.2_Silent_p.L10L|SAP130_uc002tpo.2_5'UTR|SAP130_uc010fmd.2_Silent_p.L249L|SAP130_uc002tpq.1_Silent_p.L223L	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	249					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GTCGGCCTCAGGACTGTGGTT	0.473												
SAP130	79595	broad.mit.edu	37	2	128772415	128772415	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:128772415C>A	uc002tpp.2	-	5	791	c.659G>T	c.(658-660)GGG>GTG	p.G220V	SAP130_uc002tpn.2_5'Flank|SAP130_uc002tpo.2_5'UTR|SAP130_uc010fmd.2_Missense_Mutation_p.G220V|SAP130_uc002tpq.1_Missense_Mutation_p.G194V	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	220					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AAGAGGGGGCCCAGGAGCATT	0.418												
UGGT1	56886	broad.mit.edu	37	2	128886646	128886646	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:128886646C>T	uc002tps.2	+	13	1448	c.1270C>T	c.(1270-1272)CTG>TTG	p.L424L	UGGT1_uc010fme.1_Silent_p.L299L|UGGT1_uc002tpr.2_Silent_p.L400L	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	424					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						AATGGAGGGTCTGCATAGATT	0.423												
TUBA3E	112714	broad.mit.edu	37	2	130951632	130951632	+	Silent	SNP	C	C	T	rs150508021		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:130951632C>T	uc002tqv.2	-	4	884	c.783G>A	c.(781-783)CCG>CCA	p.P261P		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	261					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					TGCGGGGGTACGGCACGAGGT	0.602												
GPR148	344561	broad.mit.edu	37	2	131487357	131487357	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:131487357G>A	uc002trv.1	+	1	635	c.633G>A	c.(631-633)CCG>CCA	p.P211P		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	211	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1	Colorectal(110;0.1)					GCACCCAGCCGGGATGTGGCC	0.542												
POTEE	445582	broad.mit.edu	37	2	131976372	131976372	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:131976372T>C	uc002tsn.2	+	1	449	c.397T>C	c.(397-399)TAC>CAC	p.Y133H	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	133							ATP binding				0						GGAGCCCAGGTACCACGTCCG	0.602												
MGAT5	4249	broad.mit.edu	37	2	135206337	135206337	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:135206337C>T	uc002ttv.1	+	16	2290	c.2145C>T	c.(2143-2145)GGC>GGT	p.G715G	LOC151162_uc002ttw.3_5'Flank	NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	715	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GCTGTGCAGGCGCCCACCCCA	0.587												
ACMSD	130013	broad.mit.edu	37	2	135621077	135621077	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:135621077C>T	uc002ttz.2	+	5	429	c.362C>T	c.(361-363)GCC>GTC	p.A121V	ACMSD_uc002tua.2_Missense_Mutation_p.A63V	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	121					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.115)		CCCATGCAGGCCCCTGAGCTG	0.592												
RAB3GAP1	22930	broad.mit.edu	37	2	135848616	135848616	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:135848616T>C	uc002tuj.2	+	4	224	c.199T>C	c.(199-201)TTT>CTT	p.F67L	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.F67L|RAB3GAP1_uc010fng.2_5'UTR|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	67						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		TGAAATTTCCTTTGCTGACTT	0.328												
MCM6	4175	broad.mit.edu	37	2	136620237	136620237	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:136620237C>T	uc002tuw.2	-	8	1236	c.1160G>A	c.(1159-1161)CGA>CAA	p.R387Q		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	387	MCM.			PKTTGEGTSLR -> SKDNRRRDLSS (in Ref. 2; AAC50766).	cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TATGTCCCCTCGAAGAGAGGT	0.448												
LRP1B	53353	broad.mit.edu	37	2	141260673	141260673	+	Splice_Site	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:141260673C>A	uc002tvj.1	-	54	9494	c.8522_splice	c.e54-1	p.G2841_splice		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTCGATATCCTAGAGACGCA	0.398										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141609292	141609292	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:141609292T>C	uc002tvj.1	-	28	5612	c.4640A>G	c.(4639-4641)AAT>AGT	p.N1547S	LRP1B_uc010fnl.1_Missense_Mutation_p.N729S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1547	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTATTGTGATTGATTAGACA	0.433										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141946087	141946087	+	Missense_Mutation	SNP	G	G	A	rs147347638		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:141946087G>A	uc002tvj.1	-	7	1888	c.916C>T	c.(916-918)CGG>TGG	p.R306W	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	306	Extracellular (Potential).|LDL-receptor class B 2.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAAAGATCCGGTCACCGACA	0.418										TSP Lung(27;0.18)		
MBD5	55777	broad.mit.edu	37	2	149227817	149227817	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:149227817G>A	uc002twm.3	+	9	3293	c.2305G>A	c.(2305-2307)GTT>ATT	p.V769I	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.V769I|MBD5_uc002twn.1_Missense_Mutation_p.V210I	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	769						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CACTAACTTTGTTCACAGTAA	0.478												
MBD5	55777	broad.mit.edu	37	2	149247420	149247420	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:149247420A>G	uc002twm.3	+	12	4508	c.3520A>G	c.(3520-3522)AAA>GAA	p.K1174E	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.K1174E|MBD5_uc002two.2_Missense_Mutation_p.K432E|MBD5_uc002twp.2_Missense_Mutation_p.K224E	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1174						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGACCATGGGAAAAATGTGAA	0.512												
NEB	4703	broad.mit.edu	37	2	152500374	152500374	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:152500374G>A	uc010fnx.2	-	57	8105	c.7914C>T	c.(7912-7914)AGC>AGT	p.S2638S		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2638	Nebulin 71.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGATGACATCGCTCTGGTCGG	0.507												
GALNT13	114805	broad.mit.edu	37	2	155157975	155157975	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:155157975T>C	uc002tyr.3	+	9	1596	c.1029T>C	c.(1027-1029)CAT>CAC	p.H343H	GALNT13_uc002tyt.3_Silent_p.H343H|GALNT13_uc010foc.1_Silent_p.H162H|GALNT13_uc010fod.2_Silent_p.H96H	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	343	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						ATGTTGGTCATGTTTTTCGGA	0.408												
NR4A2	4929	broad.mit.edu	37	2	157186467	157186467	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:157186467A>G	uc002tyz.3	-	3	654	c.232T>C	c.(232-234)TTG>CTG	p.L78L	NR4A2_uc002tyx.3_Silent_p.L15L|NR4A2_uc010zcf.1_Silent_p.L78L|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	78					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						ATTTGGTACAAGCAAGGTGGC	0.532												
TANC1	85461	broad.mit.edu	37	2	160086261	160086261	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:160086261G>A	uc002uag.2	+	27	4598	c.4324G>A	c.(4324-4326)GAA>AAA	p.E1442K	TANC1_uc010zcm.1_3'UTR|TANC1_uc010fon.2_Missense_Mutation_p.E286K	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1442						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CTCCGAGAACGAAGAGGACAC	0.542												
LY75	4065	broad.mit.edu	37	2	160676263	160676263	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:160676263C>A	uc002ubc.3	-	29	4196	c.4127G>T	c.(4126-4128)AGC>ATC	p.S1376I	LY75_uc002ubb.3_Missense_Mutation_p.S1376I|LY75_uc010fos.2_Missense_Mutation_p.S1376I	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	1376	Extracellular (Potential).				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		AGCAAGAATGCTGTGCTGGTG	0.343												
LY75	4065	broad.mit.edu	37	2	160734894	160734894	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:160734894G>A	uc002ubc.3	-	11	1784	c.1715C>T	c.(1714-1716)GCA>GTA	p.A572V	LY75_uc002ubb.3_Missense_Mutation_p.A572V|LY75_uc010fos.2_Missense_Mutation_p.A572V|LY75_uc010fot.1_Missense_Mutation_p.A572V	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	572	Extracellular (Potential).|C-type lectin 3.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		ACCAACAGTTGCCCAGTTATA	0.388												
TBR1	10716	broad.mit.edu	37	2	162275407	162275407	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:162275407T>A	uc002ubw.1	+	4	1276	c.974T>A	c.(973-975)GTG>GAG	p.V325E	TBR1_uc010foy.2_Missense_Mutation_p.V38E	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	325	T-box.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						GGACAGATGGTGGTTTTACAG	0.557												
TBR1	10716	broad.mit.edu	37	2	162280648	162280648	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:162280648G>A	uc002ubw.1	+	6	2261	c.1959G>A	c.(1957-1959)CCG>CCA	p.P653P	TBR1_uc010foy.2_Silent_p.P366P	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	653						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						GTTCGTCCCCGCTCAAGAGCG	0.602												
GRB14	2888	broad.mit.edu	37	2	165477753	165477753	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:165477753C>T	uc002ucl.2	-	1	608	c.67G>A	c.(67-69)GCC>ACC	p.A23T	GRB14_uc002ucm.2_RNA	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	23					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						ACCTGGGCGGCCAGCGGCGAA	0.766												
SLC38A11	151258	broad.mit.edu	37	2	165755181	165755181	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:165755181C>T	uc002ucv.1	-	13	1524	c.987G>A	c.(985-987)CTG>CTA	p.L329L	SLC38A11_uc002ucu.1_Silent_p.L307L|SLC38A11_uc002ucw.1_Silent_p.L329L	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	329	Extracellular (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1						GTTCTTCAGACAGTTTCAGAT	0.418												
SCN2A	6326	broad.mit.edu	37	2	166165865	166165865	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:166165865T>C	uc002udc.2	+	6	899	c.609T>C	c.(607-609)TAT>TAC	p.Y203Y	SCN2A_uc002udd.2_Silent_p.Y203Y|SCN2A_uc002ude.2_Intron	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	203	Helical; Name=S3 of repeat I; (Potential).|I.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	ATTACAGATATGTGACAGAGT	0.433												
SCN2A	6326	broad.mit.edu	37	2	166246013	166246013	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:166246013G>A	uc002udc.2	+	27	5987	c.5697G>A	c.(5695-5697)ACG>ACA	p.T1899T	SCN2A_uc002udd.2_Silent_p.T1899T|SCN2A_uc002ude.2_Silent_p.T1899T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1899					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	TTACGACCACGTTGAAACGCA	0.443												
SCN7A	6332	broad.mit.edu	37	2	167262953	167262953	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:167262953C>T	uc002udu.1	-	25	4313	c.4186G>A	c.(4186-4188)GTA>ATA	p.V1396I		NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	1396	Helical; Name=S5 of repeat IV; (By similarity).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						ATTCCAAATACGGCATAGATG	0.363												
LASS6	253782	broad.mit.edu	37	2	169417819	169417819	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:169417819T>C	uc002ueb.1	+	3	518	c.394T>C	c.(394-396)TTC>CTC	p.F132L	LASS6_uc002uec.1_Missense_Mutation_p.F132L	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	longevity assurance homolog 6	132	Cytoplasmic (Potential).|TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			skin(1)	1						GCTGACGAGGTTCTGTGAGAG	0.463												
ABCB11	8647	broad.mit.edu	37	2	169781256	169781256	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:169781256G>A	uc002ueo.1	-	27	3802	c.3676C>T	c.(3676-3678)CGC>TGC	p.R1226C	ABCB11_uc010zda.1_Missense_Mutation_p.R644C|ABCB11_uc010zdb.1_Missense_Mutation_p.R702C	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	1226	Cytoplasmic (Potential).|ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ATAGCAATGCGTTGTTTCTCC	0.398												
LRP2	4036	broad.mit.edu	37	2	170135979	170135979	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:170135979G>A	uc002ues.2	-	12	1681	c.1468C>T	c.(1468-1470)CGC>TGC	p.R490C	LRP2_uc010zdf.1_Missense_Mutation_p.R490C	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	490	LDL-receptor class B 2.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATATCTATGCGGTTGACCTTG	0.428												
KBTBD10	10324	broad.mit.edu	37	2	170366496	170366496	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:170366496A>G	uc002ueu.1	+	1	285	c.208A>G	c.(208-210)AAA>GAA	p.K70E	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	kelch repeat and BTB (POZ) domain containing 10	70	BTB.				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0						TGATGAGGCGAAAAAAAAGGA	0.388												
KBTBD10	10324	broad.mit.edu	37	2	170367065	170367065	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:170367065C>T	uc002ueu.1	+	1	854	c.777C>T	c.(775-777)TTC>TTT	p.F259F	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	kelch repeat and BTB (POZ) domain containing 10	259					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0						AAGATGCTTTCGCAGGCAAAC	0.393												
PHOSPHO2	493911	broad.mit.edu	37	2	170557504	170557504	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:170557504A>G	uc002ufg.2	+	4	411	c.23A>G	c.(22-24)GAC>GGC	p.D8G	KLHL23_uc002ufh.1_Intron	NM_001008489	NP_001008489	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	8		Magnesium (By similarity).|Nucleophile (By similarity).					metal ion binding|pyridoxal phosphatase activity			skin(1)	1						CTAGTTTTTGACTTTGACAAT	0.323												
HOXD9	3235	broad.mit.edu	37	2	176987530	176987530	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:176987530T>A	uc010zex.1	+	1	118	c.34T>A	c.(34-36)TCT>ACT	p.S12T		NM_014213	NP_055028	P28356	HXD9_HUMAN	homeobox D9	12						nucleus	sequence-specific DNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CCTCAAAATGTCTTCCAGTGG	0.677												
TTC30A	92104	broad.mit.edu	37	2	178482964	178482964	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:178482964C>A	uc002ulo.2	-	1	731	c.466G>T	c.(466-468)GGC>TGC	p.G156C		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	156	TPR 3.				cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			TTGACCTGGCCATCGGTCTCA	0.582												
PLEKHA3	65977	broad.mit.edu	37	2	179355475	179355475	+	Silent	SNP	A	A	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:179355475A>C	uc002umn.2	+	3	645	c.247A>C	c.(247-249)AGG>CGG	p.R83R		NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A	83	PH.					cytoplasm|membrane				ovary(1)|kidney(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			TGAAAGACAGAGGTGGCTGGT	0.418												
TTN	7273	broad.mit.edu	37	2	179438111	179438111	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:179438111C>T	uc010zfg.1	-	275	65268	c.65044G>A	c.(65044-65046)GGT>AGT	p.G21682S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G15377S|TTN_uc010zfi.1_Missense_Mutation_p.G15310S|TTN_uc010zfj.1_Missense_Mutation_p.G15185S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22609							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACTTCCACCATCAGAATCA	0.408												
TTN	7273	broad.mit.edu	37	2	179458084	179458084	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:179458084C>G	uc010zfg.1	-	248	51371	c.51147G>C	c.(51145-51147)AAG>AAC	p.K17049N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K10744N|TTN_uc010zfi.1_Missense_Mutation_p.K10677N|TTN_uc010zfj.1_Missense_Mutation_p.K10552N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17976							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTTTCTCTCTTTTCCAGGA	0.393												
TTN	7273	broad.mit.edu	37	2	179459139	179459139	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:179459139G>A	uc010zfg.1	-	245	50602	c.50378C>T	c.(50377-50379)GCT>GTT	p.A16793V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A10488V|TTN_uc010zfi.1_Missense_Mutation_p.A10421V|TTN_uc010zfj.1_Missense_Mutation_p.A10296V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17720							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGTTGACAGCACTGACACG	0.383												
TTN	7273	broad.mit.edu	37	2	179484491	179484491	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:179484491A>G	uc010zfg.1	-	199	39073	c.38849T>C	c.(38848-38850)GTT>GCT	p.V12950A	TTN_uc010zfh.1_Missense_Mutation_p.V6645A|TTN_uc010zfi.1_Missense_Mutation_p.V6578A|TTN_uc010zfj.1_Missense_Mutation_p.V6453A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13877							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGACAACAACCATGTTATT	0.413												
TTN	7273	broad.mit.edu	37	2	179500703	179500703	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:179500703G>A	uc010zfg.1	-	175	34115	c.33891C>T	c.(33889-33891)TGC>TGT	p.C11297C	TTN_uc010zfh.1_Silent_p.C4992C|TTN_uc010zfi.1_Silent_p.C4925C|TTN_uc010zfj.1_Silent_p.C4800C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12224							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTACTTTTACGCAAGATGAAC	0.428												
TTN	7273	broad.mit.edu	37	2	179605004	179605004	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:179605004G>A	uc010zfh.1	-	46	12667	c.12443C>T	c.(12442-12444)GCG>GTG	p.A4148V	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.A4081V|TTN_uc010zfj.1_Missense_Mutation_p.A3956V|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTCTGACCGCAGAATCTTG	0.448												
ITGAV	3685	broad.mit.edu	37	2	187533573	187533573	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:187533573T>C	uc002upq.2	+	25	2794	c.2518T>C	c.(2518-2520)TAT>CAT	p.Y840H	ITGAV_uc010frs.2_Missense_Mutation_p.Y804H|ITGAV_uc010zfv.1_Missense_Mutation_p.Y794H	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	840	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CACTCTGTTGTATATCCTTCA	0.363												
ZSWIM2	151112	broad.mit.edu	37	2	187703885	187703885	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:187703885G>T	uc002upu.1	-	4	335	c.295C>A	c.(295-297)CTG>ATG	p.L99M		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	99					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCAAGACCCAGTTGTAAAGCA	0.388												
ANKAR	150709	broad.mit.edu	37	2	190557866	190557866	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:190557866T>C	uc002uqw.1	+	4	1057	c.1057T>C	c.(1057-1059)TAT>CAT	p.Y353H	ANKAR_uc002uqu.2_RNA	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	424						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATATAAAGAATATTACTCAAT	0.289												
GLS	2744	broad.mit.edu	37	2	191819482	191819482	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:191819482T>C	uc002usf.2	+	17	2055	c.1791T>C	c.(1789-1791)GGT>GGC	p.G597G	GLS_uc002ush.2_Silent_p.G258G|GLS_uc010zgi.1_Missense_Mutation_p.S200P|GLS_uc010zgj.1_Silent_p.G102G	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	597	ANK.				cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACGGTATAGGTCATGTTGAAG	0.373												
SDPR	8436	broad.mit.edu	37	2	192700726	192700726	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:192700726G>A	uc002utb.2	-	2	1531	c.1201C>T	c.(1201-1203)CTA>TTA	p.L401L		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	401						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TCGGATGTTAGCGCGTAGCTA	0.602												
DNAH7	56171	broad.mit.edu	37	2	196753019	196753019	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:196753019A>T	uc002utj.3	-	33	5470	c.5369T>A	c.(5368-5370)GTC>GAC	p.V1790D		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1790	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						CGAAACAGGGACCATTCTGTC	0.348												
MOBKL3	25843	broad.mit.edu	37	2	198405143	198405143	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:198405143T>C	uc002uun.3	+	5	376	c.336T>C	c.(334-336)GCT>GCC	p.A112A	MOBKL3_uc002uum.3_Silent_p.A80A|MOBKL3_uc010fsn.2_Silent_p.A91A|MOBKL3_uc010fso.2_Silent_p.A13A|MOBKL3_uc010zgz.1_Silent_p.A13A	NM_015387	NP_056202	Q9Y3A3	MOBL3_HUMAN	Mps One Binder kinase activator-like 3 isoform	112					transport	Golgi cisterna membrane|perinuclear region of cytoplasm	metal ion binding|protein binding				0			Epithelial(96;0.225)			TTTGTGCAGCTCATAAAACTC	0.294												
SATB2	23314	broad.mit.edu	37	2	200137088	200137088	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:200137088G>A	uc002uuy.1	-	11	2865	c.2048C>T	c.(2047-2049)GCG>GTG	p.A683V	SATB2_uc010fsq.1_Missense_Mutation_p.A565V|SATB2_uc002uuz.1_Missense_Mutation_p.A683V|SATB2_uc002uva.1_Missense_Mutation_p.A683V	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	683						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CACGTCCACCGCGGAGCCCAG	0.572												
CASP8	841	broad.mit.edu	37	2	202131222	202131222	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:202131222A>G	uc002uxr.1	+	3	222	c.13A>G	c.(13-15)AGA>GGA	p.R5G	CASP8_uc010ftc.1_Missense_Mutation_p.R5G|CASP8_uc002uxo.1_Missense_Mutation_p.R5G|CASP8_uc002uxp.1_Missense_Mutation_p.R5G|CASP8_uc002uxq.1_Missense_Mutation_p.R5G|CASP8_uc002uxs.1_Missense_Mutation_p.R5G|CASP8_uc002uxt.1_Missense_Mutation_p.R64G|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.R5G|CASP8_uc002uxw.1_Missense_Mutation_p.R5G|CASP8_uc002uxy.1_Missense_Mutation_p.R5G|CASP8_uc002uxx.1_Missense_Mutation_p.R5G|CASP8_uc010ftf.2_Missense_Mutation_p.R5G	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	5	DED 1.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						GGACTTCAGCAGAAATCTTTA	0.403										HNSCC(4;0.00038)		
ALS2CR4	65062	broad.mit.edu	37	2	202498046	202498046	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:202498046C>T	uc002uyh.1	-	7	484	c.383G>A	c.(382-384)CGG>CAG	p.R128Q	ALS2CR4_uc002uyg.1_Missense_Mutation_p.R120Q|ALS2CR4_uc010zho.1_5'Flank|ALS2CR4_uc010zhp.1_RNA	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	152						integral to membrane	protein binding				0						TGTCTTCCTCCGAGGTTTTTG	0.403												
MPP4	58538	broad.mit.edu	37	2	202510002	202510002	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:202510002T>C	uc002uyk.3	-	22	2053	c.1845A>G	c.(1843-1845)ATA>ATG	p.I615M	ALS2CR4_uc002uyg.1_5'Flank|ALS2CR4_uc002uyh.1_5'Flank|MPP4_uc002uyi.3_Missense_Mutation_p.I233M|MPP4_uc010ftj.2_Missense_Mutation_p.I608M|MPP4_uc010zhq.1_Missense_Mutation_p.I584M|MPP4_uc010zhr.1_Missense_Mutation_p.I591M|MPP4_uc010zhs.1_Missense_Mutation_p.I540M|MPP4_uc002uyj.3_Missense_Mutation_p.I580M|MPP4_uc010zht.1_Missense_Mutation_p.I557M|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.I571M	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	615	Guanylate kinase-like.|Potential.					cytoplasm	protein binding				0						GAGCCTTCTGTATGGCAGACA	0.438												
ALS2	57679	broad.mit.edu	37	2	202588083	202588083	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:202588083G>A	uc002uyo.2	-	22	3950	c.3594C>T	c.(3592-3594)TAC>TAT	p.Y1198Y	ALS2_uc002uyp.3_Silent_p.Y1198Y|ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1198	MORN 7.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						AGTTGCCCTCGTAGTATAATC	0.368												
FZD7	8324	broad.mit.edu	37	2	202900173	202900173	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:202900173C>T	uc002uyw.1	+	1	864	c.803C>T	c.(802-804)ACG>ATG	p.T268M		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	268	Helical; Name=1; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)|breast(1)	4						TGCGCCTCGACGCTCTTTACC	0.637											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CRYGB	1419	broad.mit.edu	37	2	209007411	209007411	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:209007411G>A	uc002vcp.3	-	3	512	c.479C>T	c.(478-480)GCT>GTT	p.A160V		NM_005210	NP_005201	P07316	CRGB_HUMAN	crystallin, gamma B	160	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens				0				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		GGCATTTGGAGCCCCCCAATC	0.468												
IDH1	3417	broad.mit.edu	37	2	209110079	209110079	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:209110079T>C	uc002vcs.2	-	5	730	c.484A>G	c.(484-486)ACC>GCC	p.T162A	IDH1_uc002vct.2_Missense_Mutation_p.T162A|IDH1_uc002vcu.2_Missense_Mutation_p.T162A	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	162					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ACCTTTTGGGTTCCGTCACTT	0.348			Mis		gliobastoma 							
PIKFYVE	200576	broad.mit.edu	37	2	209204275	209204275	+	Silent	SNP	C	C	T	rs143759936	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:209204275C>T	uc002vcz.2	+	30	4964	c.4806C>T	c.(4804-4806)TCC>TCT	p.S1602S		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1602					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						CCAGCAGTTCCGAAGGTAGAG	0.383												
RPE	6120	broad.mit.edu	37	2	210881345	210881345	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:210881345A>G	uc002vdn.2	+	4	462	c.457A>G	c.(457-459)ATG>GTG	p.M153V	RPE_uc002vdm.2_Missense_Mutation_p.M153V|RPE_uc002vdo.2_Missense_Mutation_p.M103V|RPE_uc010zjf.1_Missense_Mutation_p.M153V|RPE_uc002vdp.2_Missense_Mutation_p.M100V|RPE_uc010fup.2_Missense_Mutation_p.M85V|RPE_uc002vdq.2_Missense_Mutation_p.M103V|RPE_uc002vdr.2_Intron	NM_199229	NP_954699	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase isoform 1	153					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity				0				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		GCAGAAATTCATGGAAGATAT	0.408												
ABCA12	26154	broad.mit.edu	37	2	215866295	215866295	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:215866295G>A	uc002vew.2	-	21	3070	c.2850C>T	c.(2848-2850)AAC>AAT	p.N950N	ABCA12_uc002vev.2_Silent_p.N632N|ABCA12_uc010zjn.1_Translation_Start_Site	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	950					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAAAGAGTTCGTTGCTTTTGT	0.383												
FN1	2335	broad.mit.edu	37	2	216292965	216292965	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:216292965G>A	uc002vfa.2	-	6	1048	c.782C>T	c.(781-783)ACA>ATA	p.T261I	FN1_uc002vfb.2_Missense_Mutation_p.T261I|FN1_uc002vfc.2_Missense_Mutation_p.T261I|FN1_uc002vfd.2_Missense_Mutation_p.T261I|FN1_uc002vfe.2_Missense_Mutation_p.T261I|FN1_uc002vff.2_Missense_Mutation_p.T261I|FN1_uc002vfg.2_Missense_Mutation_p.T261I|FN1_uc002vfh.2_Missense_Mutation_p.T261I|FN1_uc002vfi.2_Missense_Mutation_p.T261I|FN1_uc002vfj.2_Missense_Mutation_p.T261I|FN1_uc002vfl.2_Missense_Mutation_p.T261I	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	261	Fibrin- and heparin-binding 1.|Fibronectin type-I 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCGTTGCCTGTGCAGATGCA	0.552												
XRCC5	7520	broad.mit.edu	37	2	217069075	217069075	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:217069075G>A	uc002vfy.2	+	20	2280	c.2140G>A	c.(2140-2142)GAC>AAC	p.D714N	XRCC5_uc002vfz.2_Missense_Mutation_p.D600N	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	714					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			lung(1)|kidney(1)	2		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		ACCAAGTGGAGACACAGCAGC	0.398								Direct_reversal_of_damage|NHEJ				
IGFBP2	3485	broad.mit.edu	37	2	217526674	217526674	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:217526674C>A	uc010zjt.1	+	5	895	c.745C>A	c.(745-747)CTG>ATG	p.L249M	IGFBP2_uc010zju.1_3'UTR	NM_000597	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2,	256	Thyroglobulin type-1.				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding				0		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CCTCTACTCCCTGCACATCCC	0.637												
TNS1	7145	broad.mit.edu	37	2	218713553	218713553	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:218713553G>A	uc002vgt.2	-	17	1710	c.1312C>T	c.(1312-1314)CGG>TGG	p.R438W	TNS1_uc002vgr.2_Missense_Mutation_p.R438W|TNS1_uc002vgs.2_Missense_Mutation_p.R438W|TNS1_uc010zjv.1_Missense_Mutation_p.R438W|TNS1_uc010fvj.1_Missense_Mutation_p.R506W|TNS1_uc010fvk.1_Missense_Mutation_p.R563W|TNS1_uc010fvi.1_Missense_Mutation_p.R125W	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	438						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCAGCTCCCGCTTCTCCTGG	0.662												
ZNF142	7701	broad.mit.edu	37	2	219506825	219506825	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:219506825G>A	uc002vin.2	-	8	4850	c.4414C>T	c.(4414-4416)CGC>TGC	p.R1472C	ZNF142_uc002vil.2_Missense_Mutation_p.R1433C|ZNF142_uc010fvt.2_Missense_Mutation_p.R1309C|ZNF142_uc002vim.2_Missense_Mutation_p.R1309C	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	1472	C2H2-type 25.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GTGTGGATGCGGCTGTGCCAG	0.507												
WNT10A	80326	broad.mit.edu	37	2	219757584	219757584	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:219757584A>T	uc002vjd.1	+	4	1308	c.845A>T	c.(844-846)GAG>GTG	p.E282V		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family,	282					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			lung(1)|skin(1)	2		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGACGCCCGAGTTCCGCACC	0.652												
CCDC108	255101	broad.mit.edu	37	2	219878669	219878669	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:219878669C>T	uc002vjl.1	-	22	3784	c.3700G>A	c.(3700-3702)GAC>AAC	p.D1234N		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1234						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCAATTGTCCTGCACGCGC	0.582												
CCDC108	255101	broad.mit.edu	37	2	219900228	219900228	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:219900228G>T	uc002vjl.1	-	5	600	c.516C>A	c.(514-516)TCC>TCA	p.S172S	CCDC108_uc010zkp.1_Silent_p.S161S|CCDC108_uc010zkq.1_Silent_p.S107S|CCDC108_uc002vjn.2_Silent_p.S107S	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	172						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGTTTCAAGGATCGATTTT	0.488												
NHEJ1	79840	broad.mit.edu	37	2	220012447	220012447	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:220012447G>A	uc002vjp.3	-	4	607	c.461C>T	c.(460-462)GCA>GTA	p.A154V	NHEJ1_uc002vjq.3_RNA	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	154					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			lung(1)	1		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		AAGTAACGTTGCTAGCTCCCT	0.483								Direct_reversal_of_damage|NHEJ				
CHPF	79586	broad.mit.edu	37	2	220404387	220404387	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:220404387G>A	uc002vmc.3	-	4	2273	c.2046C>T	c.(2044-2046)TCC>TCT	p.S682S	CHPF_uc010zlh.1_Silent_p.S520S	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	682	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding				0		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCACATAGTCGGAGTTGTAGA	0.647												
CHPF	79586	broad.mit.edu	37	2	220406868	220406868	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:220406868G>A	uc002vmc.3	-	2	585	c.358C>T	c.(358-360)CTG>TTG	p.L120L	CHPF_uc010zlh.1_5'UTR|CHPF_uc002vmd.3_Silent_p.L120L|TMEM198_uc002vme.2_5'Flank|TMEM198_uc002vmf.2_5'Flank	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	120	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding				0		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		ACCGCCACCAGCAGCCTCTGC	0.677											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CCDC140	151278	broad.mit.edu	37	2	223168661	223168661	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:223168661C>T	uc002vnb.1	+	2	424	c.40C>T	c.(40-42)CCT>TCT	p.P14S		NM_153038	NP_694583	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	14											0		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCGCTGAGCCTGGAAGCTC	0.562												
ACSL3	2181	broad.mit.edu	37	2	223791735	223791735	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:223791735C>T	uc002vni.2	+	12	1744	c.1293C>T	c.(1291-1293)AGC>AGT	p.S431S	ACSL3_uc002vnj.2_Silent_p.S431S	NM_004457	NP_004448	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	431	Cytoplasmic (Potential).				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			ovary(2)	2		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTTCTTTAGCTTTGTTTTCC	0.259			T	ETV1	prostate							
WDFY1	57590	broad.mit.edu	37	2	224765909	224765909	+	Missense_Mutation	SNP	G	G	A	rs149201768		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:224765909G>A	uc002vnq.2	-	5	527	c.476C>T	c.(475-477)TCG>TTG	p.S159L		NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	159	WD 4.					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			lung(1)	1		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CTGCAGACACGAAGCCCAGGA	0.557												
KIAA1486	57624	broad.mit.edu	37	2	226446794	226446794	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:226446794T>C	uc002voe.2	+	4	836	c.661T>C	c.(661-663)TCG>CCG	p.S221P	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	221										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		CCGGAGGACGTCGCTGCCGCG	0.582												
KIAA1486	57624	broad.mit.edu	37	2	226447029	226447029	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:226447029C>A	uc002voe.2	+	4	1071	c.896C>A	c.(895-897)CCC>CAC	p.P299H	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.P69H	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	299										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		TGTGCTACTCCCACGGTGCCT	0.577												
PID1	55022	broad.mit.edu	37	2	230020598	230020598	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:230020598G>A	uc002vpr.3	-	2	250	c.212C>T	c.(211-213)CCG>CTG	p.P71L	PID1_uc002vps.3_Missense_Mutation_p.P69L|PID1_uc002vpt.3_Missense_Mutation_p.P38L|PID1_uc002vpu.3_Intron	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	71						cytoplasm				breast(3)|skin(1)	4		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		AATGGCCTCCGGCTCATGGAA	0.507												
SLC16A14	151473	broad.mit.edu	37	2	230910788	230910788	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:230910788C>T	uc002vqd.1	-	4	1417	c.1054G>A	c.(1054-1056)GTT>ATT	p.V352I	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.V352I|SLC16A14_uc002vqf.2_Missense_Mutation_p.V352I	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	352	Cytoplasmic (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AGAGGGAAAACGTCGTTTTGC	0.418												
ALPI	248	broad.mit.edu	37	2	233322328	233322328	+	Silent	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:233322328T>G	uc002vst.3	+	6	779	c.702T>G	c.(700-702)CCT>CCG	p.P234P	ALPI_uc002vsu.3_Silent_p.P145P	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	234					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCCCAGACCCTGAGTACCCAG	0.622												
CHRND	1144	broad.mit.edu	37	2	233394699	233394699	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:233394699C>A	uc002vsw.2	+	7	674	c.670C>A	c.(670-672)CCC>ACC	p.P224T	CHRND_uc010zmg.1_Missense_Mutation_p.P209T|CHRND_uc010fyc.2_Missense_Mutation_p.P97T|CHRND_uc010zmh.1_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	224	Extracellular (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CAACGTGGACCCCAGAGCCCC	0.632												
DGKD	8527	broad.mit.edu	37	2	234343475	234343475	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:234343475G>A	uc002vui.1	+	5	526	c.514G>A	c.(514-516)GCG>ACG	p.A172T	DGKD_uc002vuj.1_Missense_Mutation_p.A128T|DGKD_uc010fyh.1_Missense_Mutation_p.A39T|DGKD_uc002vuk.1_Missense_Mutation_p.A39T	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	172	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CTGTTCCCACGCGAGGCCGAC	0.562												
USP40	55230	broad.mit.edu	37	2	234394560	234394560	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:234394560G>T	uc010zmr.1	-	28	3294	c.3294C>A	c.(3292-3294)GCC>GCA	p.A1098A	USP40_uc002vul.2_Silent_p.A82A|USP40_uc010zms.1_Silent_p.A196A	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	ubiquitin thioesterase 40	1086					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|breast(1)	3		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCAGGTCCAGGGCAGGGGCAT	0.597												
UGT1A9	54600	broad.mit.edu	37	2	234581202	234581202	+	Missense_Mutation	SNP	C	C	T	rs111861762	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:234581202C>T	uc002vus.2	+	1	659	c.622C>T	c.(622-624)CGG>TGG	p.R208W	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.R208W	NM_021027	NP_066307	O60656	UD19_HUMAN	UDP glycosyltransferase 1 family, polypeptide A9	208					drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(3)|breast(1)|skin(1)	5		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)	GGAGAGAGTACGGAACCACAT	0.448												
SH3BP4	23677	broad.mit.edu	37	2	235950198	235950198	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:235950198C>T	uc002vvp.2	+	4	1178	c.785C>T	c.(784-786)TCG>TTG	p.S262L	SH3BP4_uc010fym.2_Missense_Mutation_p.S262L|SH3BP4_uc002vvq.2_Missense_Mutation_p.S262L	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	262					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCTCCCACATCGTCGAGTTTC	0.592												
SH3BP4	23677	broad.mit.edu	37	2	235962450	235962450	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:235962450T>C	uc002vvp.2	+	6	3275	c.2882T>C	c.(2881-2883)TTC>TCC	p.F961S	SH3BP4_uc010fym.2_Missense_Mutation_p.F943S|SH3BP4_uc002vvq.2_Missense_Mutation_p.F961S	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	961					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAGGACGACTTCGTGATTTGA	0.612												
AGAP1	116987	broad.mit.edu	37	2	236877211	236877211	+	Missense_Mutation	SNP	G	G	A	rs3207207		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:236877211G>A	uc002vvs.2	+	13	2184	c.1589G>A	c.(1588-1590)CGA>CAA	p.R530Q	AGAP1_uc002vvt.2_Missense_Mutation_p.R477Q	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	530	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						AAGAAGCACCGAAGGAAGAAA	0.627												
AGAP1	116987	broad.mit.edu	37	2	237032729	237032729	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:237032729G>A	uc002vvs.2	+	18	3132	c.2537G>A	c.(2536-2538)CGG>CAG	p.R846Q	AGAP1_uc002vvt.2_Missense_Mutation_p.R793Q	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	846					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						AACAATAACCGGAACAACAGC	0.647												
GBX2	2637	broad.mit.edu	37	2	237074930	237074930	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:237074930C>A	uc002vvw.1	-	2	712	c.674G>T	c.(673-675)GGC>GTC	p.G225V	GBX2_uc010zng.1_3'UTR	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	225				QAAHKEEDPGHALEETPPSSGA -> PGSSQGGRPGPRGGG DPAEQRR (in Ref. 6).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CAGCGCGTGGCCCGGGTCTTC	0.677												
CXCR7	57007	broad.mit.edu	37	2	237489698	237489698	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:237489698G>A	uc010fyq.2	+	3	820	c.590G>A	c.(589-591)CGG>CAG	p.R197Q	CXCR7_uc002vwd.2_Missense_Mutation_p.R197Q	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	197	Extracellular (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		ACCTACTGCCGGTCCTTCTAC	0.577												
ESPNL	339768	broad.mit.edu	37	2	239040005	239040005	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:239040005G>A	uc002vxq.3	+	9	2760	c.2650G>A	c.(2650-2652)GAG>AAG	p.E884K	ESPNL_uc010fyw.2_Missense_Mutation_p.E580K	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	884										pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTGTGCTTCGAGGTCTTCGA	0.687												
TRAF3IP1	26146	broad.mit.edu	37	2	239234538	239234538	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:239234538G>A	uc002vye.2	+	3	400	c.281G>A	c.(280-282)CGA>CAA	p.R94Q	TRAF3IP1_uc002vyf.2_Missense_Mutation_p.R94Q	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting	94	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding			ovary(1)	1		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		AAACCAGCCCGAATCGTGGCG	0.468												
ANKMY1	51281	broad.mit.edu	37	2	241459824	241459824	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:241459824C>T	uc002vyz.1	-	8	1921	c.1692G>A	c.(1690-1692)CTG>CTA	p.L564L	ANKMY1_uc002vza.1_Silent_p.L423L|ANKMY1_uc010fzd.1_Silent_p.L653L|ANKMY1_uc002vzb.1_Silent_p.L325L|ANKMY1_uc002vzc.1_Silent_p.L423L|ANKMY1_uc002vzd.1_Silent_p.L423L	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	564	ANK 3.						zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GCTCCAGCAGCAGCCTCACCC	0.612												
ANKMY1	51281	broad.mit.edu	37	2	241463539	241463539	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:241463539C>T	uc002vyz.1	-	7	1557	c.1328G>A	c.(1327-1329)GGC>GAC	p.G443D	ANKMY1_uc002vza.1_Missense_Mutation_p.G302D|ANKMY1_uc010fzd.1_Missense_Mutation_p.G532D|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Missense_Mutation_p.G302D|ANKMY1_uc002vzd.1_Missense_Mutation_p.G302D|ANKMY1_uc010fze.1_Missense_Mutation_p.G112D|ANKMY1_uc002vze.2_Missense_Mutation_p.G204D	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	443							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TTCCACATGGCCAAGGCTGCC	0.612												
PASK	23178	broad.mit.edu	37	2	242066644	242066644	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:242066644A>G	uc002wao.1	-	10	1778	c.1686T>C	c.(1684-1686)GCT>GCC	p.A562A	PASK_uc010zol.1_Silent_p.A376A|PASK_uc010zom.1_Silent_p.A527A|PASK_uc010fzl.1_Silent_p.A562A|PASK_uc010zon.1_Silent_p.A343A|PASK_uc002wap.2_Silent_p.A105A|PASK_uc002waq.2_Silent_p.A562A	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	562					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CACACATGCCAGCATCACTGC	0.597												
PPP1R7	5510	broad.mit.edu	37	2	242105824	242105824	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:242105824G>T	uc002wat.1	+	8	802	c.787G>T	c.(787-789)GGC>TGC	p.G263C	PPP1R7_uc010fzm.1_Missense_Mutation_p.G247C|PPP1R7_uc002war.2_Missense_Mutation_p.G257C|PPP1R7_uc002was.2_Missense_Mutation_p.G263C|PPP1R7_uc002wau.1_Missense_Mutation_p.G220C|PPP1R7_uc002wav.1_Missense_Mutation_p.G189C	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	263	LRR 9.					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			ovary(3)	3		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TAGCCACAATGGCATCGAGGT	0.612												
THAP4	51078	broad.mit.edu	37	2	242545825	242545825	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:242545825T>C	uc002wbt.2	-	3	1527	c.1304A>G	c.(1303-1305)GAC>GGC	p.D435G	THAP4_uc002wbs.2_Missense_Mutation_p.D23G	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	435							DNA binding|metal ion binding				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TCCAGGTGGGTCCGACAGCCA	0.602												
RBCK1	10616	broad.mit.edu	37	20	409676	409676	+	Missense_Mutation	SNP	C	C	T	rs145423115		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:409676C>T	uc002wdp.3	+	11	2083	c.1390C>T	c.(1390-1392)CGC>TGC	p.R464C	RBCK1_uc002wdq.3_Missense_Mutation_p.R422C|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Missense_Mutation_p.R294C	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing	464	IBR-type 2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CGACTGGATCCGCTGCACCGT	0.662												
PSMF1	9491	broad.mit.edu	37	20	1143792	1143792	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:1143792G>A	uc002wel.3	+	6	738	c.570G>A	c.(568-570)CCG>CCA	p.P190P	PSMF1_uc010zpo.1_Silent_p.P102P|PSMF1_uc002wem.3_Silent_p.P190P|PSMF1_uc010zpp.1_Silent_p.P128P|PSMF1_uc002wen.3_Silent_p.P190P|PSMF1_uc002wep.3_Silent_p.P141P	NM_178578	NP_848693	Q92530	PSMF1_HUMAN	proteasome inhibitor subunit 1	190	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding				0						CCCTGGGCCCGTTTGTTGTCG	0.522												
PDYN	5173	broad.mit.edu	37	20	1961192	1961192	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:1961192T>C	uc010gaj.2	-	3	784	c.542A>G	c.(541-543)AAA>AGA	p.K181R	uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.K181R|PDYN_uc010zpt.1_Missense_Mutation_p.K26R	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	181					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			upper_aerodigestive_tract(1)|ovary(1)	2						CTTGGGGTATTTGCGCAAAAA	0.592												
TGM3	7053	broad.mit.edu	37	20	2290970	2290970	+	Missense_Mutation	SNP	C	C	T	rs139117716		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:2290970C>T	uc002wfx.3	+	3	425	c.328C>T	c.(328-330)CGG>TGG	p.R110W		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	110					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	ACCCATAGGACGGTACACAAT	0.552												
GNRH2	2797	broad.mit.edu	37	20	3025350	3025350	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:3025350C>T	uc002whr.1	+	3	231	c.180C>T	c.(178-180)GGC>GGT	p.G60G	GNRH2_uc002whp.1_Silent_p.G53G|GNRH2_uc002whq.1_Silent_p.G52G|GNRH2_uc010gau.1_Silent_p.G60G|MRPS26_uc002whs.2_5'Flank	NM_001501	NP_001492	O43555	GON2_HUMAN	gonadotropin-releasing hormone 2 isoform a	60					multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity				0						CTGCAGCAGGCAGCCCAGTCC	0.672												
ProSAPiP1	9762	broad.mit.edu	37	20	3146349	3146349	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:3146349C>T	uc002wia.1	-	2	2515	c.1117G>A	c.(1117-1119)GGG>AGG	p.G373R	ProSAPiP1_uc002wib.1_Intron	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	373	Potential.					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						TGTAGCTTCCCGCTGCAGCCC	0.706												
SLC4A11	83959	broad.mit.edu	37	20	3209316	3209316	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:3209316C>A	uc002wig.2	-	17	2326	c.2278G>T	c.(2278-2280)GGC>TGC	p.G760C	SLC4A11_uc010zqe.1_Missense_Mutation_p.G787C|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.G744C	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	760	Membrane (bicarbonate transporter).|Helical; (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						ACGCTGGCGCCCAGCGAGGTC	0.672												
C20orf194	25943	broad.mit.edu	37	20	3236681	3236681	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:3236681T>C	uc002wii.2	-	34	3283	c.3232A>G	c.(3232-3234)AAG>GAG	p.K1078E	C20orf194_uc002wij.3_Missense_Mutation_p.K817E|C20orf194_uc002wik.2_Missense_Mutation_p.K752E	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	1078											0						AGCCAGTCCTTGATGCTGTCT	0.572												
C20orf194	25943	broad.mit.edu	37	20	3236756	3236756	+	Missense_Mutation	SNP	C	C	T	rs140305967	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:3236756C>T	uc002wii.2	-	34	3208	c.3157G>A	c.(3157-3159)GTA>ATA	p.V1053I	C20orf194_uc002wij.3_Missense_Mutation_p.V792I|C20orf194_uc002wik.2_Missense_Mutation_p.V727I	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	1053											0						TCTTGAGATACGCTTTTGGAG	0.552												
MAVS	57506	broad.mit.edu	37	20	3843058	3843058	+	Missense_Mutation	SNP	C	C	T	rs142678996	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:3843058C>T	uc002wjw.3	+	5	792	c.623C>T	c.(622-624)GCA>GTA	p.A208V	MAVS_uc010zqn.1_3'UTR|MAVS_uc002wjx.3_Missense_Mutation_p.A67V|MAVS_uc002wjy.3_5'UTR	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	208	Cytoplasmic (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						ACCCACACAGCAGGTATGCAT	0.562												
SMOX	54498	broad.mit.edu	37	20	4163382	4163382	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:4163382G>A	uc002wkm.1	+	5	1457	c.1256G>A	c.(1255-1257)CGC>CAC	p.R419H	SMOX_uc002wkk.1_Missense_Mutation_p.R366H|SMOX_uc002wkl.1_Missense_Mutation_p.R366H|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Missense_Mutation_p.R419H|SMOX_uc010zqo.1_Missense_Mutation_p.R343H|SMOX_uc002wko.1_Missense_Mutation_p.R419H	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	spermine oxidase isoform 1	419					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)	1					Spermine(DB00127)	CCGCCTGAGCGCTACGGCCAT	0.612												
SMOX	54498	broad.mit.edu	37	20	4163473	4163473	+	Silent	SNP	G	G	A	rs79238665		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:4163473G>A	uc002wkm.1	+	5	1548	c.1347G>A	c.(1345-1347)ACG>ACA	p.T449T	SMOX_uc002wkk.1_Silent_p.T396T|SMOX_uc002wkl.1_Silent_p.T396T|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Silent_p.T449T|SMOX_uc010zqo.1_Silent_p.T373T|SMOX_uc002wko.1_Silent_p.T449T	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	spermine oxidase isoform 1	449					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)	1					Spermine(DB00127)	AGATCTGCACGGAGATGCTGC	0.657												
RASSF2	9770	broad.mit.edu	37	20	4773205	4773205	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:4773205T>C	uc002wld.2	-	5	410	c.356A>G	c.(355-357)GAC>GGC	p.D119G	RASSF2_uc002wlc.2_RNA|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.D119G	NM_170774	NP_739580	P50749	RASF2_HUMAN	Ras association domain family 2	119					cell cycle|signal transduction	nucleus	protein binding			ovary(3)|lung(2)|large_intestine(1)	6						TGGCATCTGGTCACCCTCCGG	0.537												
LRRN4	164312	broad.mit.edu	37	20	6021784	6021784	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:6021784C>T	uc002wmo.2	-	5	2331	c.2107G>A	c.(2107-2109)GCA>ACA	p.A703T		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	703	Cytoplasmic (Potential).					integral to membrane				skin(3)	3						CAGAGACATGCGGACAGCACC	0.687												
PAK7	57144	broad.mit.edu	37	20	9546626	9546626	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:9546626C>T	uc002wnl.2	-	6	1941	c.1396G>A	c.(1396-1398)GCC>ACC	p.A466T	PAK7_uc002wnk.2_Missense_Mutation_p.A466T|PAK7_uc002wnj.2_Missense_Mutation_p.A466T|PAK7_uc010gby.1_Missense_Mutation_p.A466T	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	466	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			TTCTCGGTGGCGATGCATACG	0.527												
JAG1	182	broad.mit.edu	37	20	10620392	10620392	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:10620392C>T	uc002wnw.2	-	26	3927	c.3411G>A	c.(3409-3411)AAG>AAA	p.K1137K		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	1137	Cytoplasmic (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						TCTCATAATCCTTGATGGGGA	0.478									Alagille_Syndrome			
ISM1	140862	broad.mit.edu	37	20	13251371	13251371	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:13251371G>A	uc010gce.1	+	2	365	c.359G>A	c.(358-360)GGG>GAG	p.G120E	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	120						extracellular region					0						GATATCAATGGGCAGAATCCA	0.438												
ISM1	140862	broad.mit.edu	37	20	13279875	13279875	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:13279875C>T	uc010gce.1	+	6	1170	c.1164C>T	c.(1162-1164)GGC>GGT	p.G388G	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	388	AMOP.					extracellular region					0						GCTGCTACGGCGACAACATGC	0.637												
TASP1	55617	broad.mit.edu	37	20	13398144	13398144	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:13398144G>A	uc002woi.2	-	13	1238	c.1121C>T	c.(1120-1122)ACG>ATG	p.T374M	TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Missense_Mutation_p.T351M	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	taspase 1 precursor	374					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity				0						CATGCTCTCCGTCGTGTGGCT	0.423												
SEL1L2	80343	broad.mit.edu	37	20	13894524	13894524	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:13894524G>A	uc010gcf.2	-	5	535	c.453C>T	c.(451-453)GAC>GAT	p.D151D	SEL1L2_uc002woq.3_Silent_p.D12D|SEL1L2_uc010zrl.1_Silent_p.D151D|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	151	Extracellular (Potential).|Sel1-like 2.					integral to membrane	binding			ovary(2)	2						ATAGCAAAGCGTCAGCCATTT	0.383												
FLRT3	23767	broad.mit.edu	37	20	14307035	14307035	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:14307035G>A	uc002wov.1	-	3	1585	c.1118C>T	c.(1117-1119)ACA>ATA	p.T373I	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.T373I	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	373	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AGGATACACTGTGTTGGGTAT	0.483												
FLRT3	23767	broad.mit.edu	37	20	14307226	14307226	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:14307226G>A	uc002wov.1	-	3	1394	c.927C>T	c.(925-927)TGC>TGT	p.C309C	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.C309C	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	309	Extracellular (Potential).|LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TCTTGCACCCGCAATACCAGG	0.443												
KIF16B	55614	broad.mit.edu	37	20	16337073	16337073	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:16337073C>T	uc002wpg.1	-	23	3681	c.3523G>A	c.(3523-3525)GCA>ACA	p.A1175T	KIF16B_uc002wpe.1_Missense_Mutation_p.A557T|KIF16B_uc002wpf.1_Intron|KIF16B_uc010gch.1_Missense_Mutation_p.A1124T	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	1175					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TCTGGATTTGCGCCCAAAGAG	0.493												
PCSK2	5126	broad.mit.edu	37	20	17417499	17417499	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:17417499C>T	uc002wpm.2	+	8	1176	c.856C>T	c.(856-858)CTG>TTG	p.L286L	PCSK2_uc002wpl.2_Silent_p.L267L|PCSK2_uc010zrm.1_Silent_p.L251L	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	286	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGAGCTCACGCTGCAGGCCAT	0.627												
CSRP2BP	57325	broad.mit.edu	37	20	18142882	18142882	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:18142882T>C	uc002wqj.2	+	6	1723	c.1101T>C	c.(1099-1101)CAT>CAC	p.H367H	CSRP2BP_uc002wqk.2_Silent_p.H239H|CSRP2BP_uc010zru.1_Silent_p.H238H	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	367					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						CCTTGTTTCATGGTAAGAGTT	0.473												
NAA20	51126	broad.mit.edu	37	20	20007512	20007512	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:20007512G>A	uc002wrp.2	+	4	358	c.254G>A	c.(253-255)CGC>CAC	p.R85H	NAA20_uc002wrq.2_Missense_Mutation_p.R85H|NAA20_uc002wrr.2_Missense_Mutation_p.R73H	NM_016100	NP_057184	P61599	NAA20_HUMAN	N-acetyltransferase 5 isoform a	85	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity				0						GAATTTCGACGCCTTGGTTTG	0.458												
CRNKL1	51340	broad.mit.edu	37	20	20029078	20029078	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:20029078C>T	uc002wrs.2	-	5	879	c.847G>A	c.(847-849)GCA>ACA	p.A283T	CRNKL1_uc002wrt.1_Missense_Mutation_p.A271T	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	283	HAT 2.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						TCCATTTCTGCGTATTTCAGC	0.438												
C20orf26	26074	broad.mit.edu	37	20	20258057	20258057	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:20258057C>T	uc002wru.2	+	22	2827	c.2751C>T	c.(2749-2751)AGC>AGT	p.S917S	C20orf26_uc010zse.1_Silent_p.S897S|C20orf26_uc002wrw.2_RNA	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	917										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		CCATCTACAGCGCCTCCTTCA	0.622												
SSTR4	6754	broad.mit.edu	37	20	23017249	23017249	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:23017249C>T	uc002wsr.2	+	1	1193	c.1129C>T	c.(1129-1131)CGC>TGC	p.R377C		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	377	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGAACCCGGCCGCAAGCGCAT	0.652												
GZF1	64412	broad.mit.edu	37	20	23346375	23346375	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:23346375C>T	uc010gdb.2	+	3	1529	c.1355C>T	c.(1354-1356)ACG>ATG	p.T452M	GZF1_uc002wsy.2_Missense_Mutation_p.T452M|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Missense_Mutation_p.T452M	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	452	C2H2-type 5.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GCGCTCAAGACGCACATGAGG	0.657												
GZF1	64412	broad.mit.edu	37	20	23350284	23350284	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:23350284G>A	uc010gdb.2	+	6	1865	c.1691G>A	c.(1690-1692)CGC>CAC	p.R564H	GZF1_uc002wsy.2_Missense_Mutation_p.R564H|GZF1_uc010zsq.1_Missense_Mutation_p.R88H|GZF1_uc010zsr.1_Missense_Mutation_p.R73H|GZF1_uc002wsz.2_Missense_Mutation_p.R564H	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	564	C2H2-type 9.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GCCCTCCAGCGCCACCGCCGC	0.632												
ACSS1	84532	broad.mit.edu	37	20	24988462	24988462	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:24988462C>G	uc002wub.2	-	14	2884	c.2006G>C	c.(2005-2007)AGC>ACC	p.S669T	ACSS1_uc002wuc.2_Missense_Mutation_p.S667T|ACSS1_uc010gdc.2_Missense_Mutation_p.S464T|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.S586T	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	669					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCGATGATGCTGGGGTCCTC	0.587												
NINL	22981	broad.mit.edu	37	20	25443108	25443108	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:25443108T>C	uc002wux.1	-	20	3567	c.3493A>G	c.(3493-3495)ACC>GCC	p.T1165A	NINL_uc010gdn.1_Missense_Mutation_p.T816A	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1165	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GCCTGGTGGGTAGAAGCCTCC	0.498												
TPX2	22974	broad.mit.edu	37	20	30359471	30359471	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:30359471T>C	uc002wwp.1	+	7	1292	c.594T>C	c.(592-594)TGT>TGC	p.C198C	TPX2_uc010gdv.1_Silent_p.C198C	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog	198					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CTGTGCCTTGTATGCCACCTG	0.398												
DUSP15	128853	broad.mit.edu	37	20	30436212	30436212	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:30436212G>A	uc002wwu.1	-	10	960	c.883C>T	c.(883-885)CGC>TGC	p.R295C	FOXS1_uc002wwt.1_5'Flank			Q9H1R2	DUS15_HUMAN	RecName: Full=Dual specificity protein phosphatase 15;          EC=3.1.3.48;          EC=3.1.3.16; AltName: Full=Vaccinia virus VH1-related dual-specific protein phosphatase Y; AltName: Full=VH1-related member Y;	295						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGCCTTCAGCGGGTACAAGAA	0.637												
TM9SF4	9777	broad.mit.edu	37	20	30723902	30723902	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:30723902C>T	uc002wxj.2	+	3	390	c.155C>T	c.(154-156)ACC>ATC	p.T52I	TM9SF4_uc010ztr.1_5'UTR|TM9SF4_uc010zts.1_5'UTR|TM9SF4_uc002wxk.2_Missense_Mutation_p.T35I	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	52						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGCTCTCGAACCCAGCTACCT	0.488												
POFUT1	23509	broad.mit.edu	37	20	30797988	30797988	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:30797988T>C	uc002wxp.2	+	2	288	c.239T>C	c.(238-240)TTC>TCC	p.F80S	POFUT1_uc002wxo.2_Missense_Mutation_p.F80S|POFUT1_uc010ztt.1_Intron|POFUT1_uc010ztu.1_Intron|PLAGL2_uc002wxn.2_5'Flank	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1 isoform 1	80					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)	1			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAGCCTCCTTTCACCAACGTG	0.522												
POFUT1	23509	broad.mit.edu	37	20	30803189	30803189	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:30803189C>T	uc002wxp.2	+	3	413	c.364C>T	c.(364-366)CGG>TGG	p.R122W	POFUT1_uc002wxo.2_Missense_Mutation_p.R122W|POFUT1_uc010ztt.1_Missense_Mutation_p.R14W|POFUT1_uc010ztu.1_Intron	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1 isoform 1	122					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)	1			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCCTGAGAAGCGGGTGGCATA	0.597												
ASXL1	171023	broad.mit.edu	37	20	31017153	31017153	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:31017153A>G	uc002wxs.2	+	6	910	c.484A>G	c.(484-486)AAG>GAG	p.K162E	ASXL1_uc010geb.2_Missense_Mutation_p.K104E	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	162	Nuclear localization signal 1 (Potential).				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						GAACAAACAAAAGAAAAAGAC	0.502			F|N|Mis		MDS|CMML							
DNMT3B	1789	broad.mit.edu	37	20	31380444	31380444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:31380444C>T	uc002wyc.2	+	9	1255	c.934C>T	c.(934-936)CGA>TGA	p.R312*	DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.2_Nonsense_Mutation_p.R312*|DNMT3B_uc002wye.2_Nonsense_Mutation_p.R312*|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Nonsense_Mutation_p.R270*|DNMT3B_uc010zua.1_Nonsense_Mutation_p.R236*|DNMT3B_uc002wyf.2_Nonsense_Mutation_p.R324*|DNMT3B_uc002wyg.2_Nonsense_Mutation_p.R11*	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	312					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						AGCTAGGGTGCGAGCTGGCAA	0.637												
DNMT3B	1789	broad.mit.edu	37	20	31387129	31387129	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:31387129C>T	uc002wyc.2	+	16	2075	c.1754C>T	c.(1753-1755)GCG>GTG	p.A585V	DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.A565V|DNMT3B_uc002wye.2_Missense_Mutation_p.A565V|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.A523V|DNMT3B_uc010zua.1_Missense_Mutation_p.A489V|DNMT3B_uc002wyf.2_Missense_Mutation_p.A577V|DNMT3B_uc002wyg.2_Missense_Mutation_p.A284V|DNMT3B_uc010geg.2_5'Flank|DNMT3B_uc010geh.2_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	585			A -> V (in ICF).		negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						GATGGCATCGCGACAGGTGAG	0.577												
SUN5	140732	broad.mit.edu	37	20	31572905	31572905	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:31572905C>A	uc002wyi.2	-	12	1077	c.984G>T	c.(982-984)CAG>CAT	p.Q328H		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	sperm associated antigen 4-like	328	SUN.				spermatogenesis					skin(1)	1						TCGCAGGTACCTGGAGTGGGA	0.308												
SNTA1	6640	broad.mit.edu	37	20	31998031	31998031	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:31998031C>T	uc002wzd.1	-	6	1419	c.1147G>A	c.(1147-1149)GTG>ATG	p.V383M	SNTA1_uc010zuf.1_Missense_Mutation_p.V308M	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	acidic alpha 1 syntrophin	383	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			skin(1)	1						GGTGACTCCACGCTGAACAGG	0.662												
TP53INP2	58476	broad.mit.edu	37	20	33297114	33297114	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:33297114A>G	uc002xau.1	+	4	534	c.199A>G	c.(199-201)ATG>GTG	p.M67V		NM_021202	NP_067025	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	67						nucleus					0						gcccTCCTTGATGGACGAGAG	0.512												
NCOA6	23054	broad.mit.edu	37	20	33342540	33342540	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:33342540T>C	uc002xav.2	-	9	4231	c.1660A>G	c.(1660-1662)AAT>GAT	p.N554D	NCOA6_uc002xaw.2_Missense_Mutation_p.N554D	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	554	TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						TGCTGGACATTTTGATTTGCT	0.338												
PROCR	10544	broad.mit.edu	37	20	33763974	33763974	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:33763974C>A	uc002xbt.2	+	3	510	c.326C>A	c.(325-327)CCT>CAT	p.P109H	EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Missense_Mutation_p.P146H	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	endothelial protein C receptor precursor	109	Extracellular (Potential).				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity				0			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	TCCACAGTTCCTCTGACCATC	0.582												
CPNE1	8904	broad.mit.edu	37	20	34220121	34220121	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:34220121T>C	uc002xdf.2	-	7	783	c.420A>G	c.(418-420)GTA>GTG	p.V140V	CPNE1_uc002xdc.2_5'Flank|CPNE1_uc010zvj.1_Silent_p.V145V|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdg.2_Silent_p.V140V|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Silent_p.V140V|CPNE1_uc002xdi.2_Silent_p.V140V|CPNE1_uc002xdj.2_Silent_p.V140V|CPNE1_uc002xdk.2_Silent_p.V140V|CPNE1_uc002xdl.2_Silent_p.V140V|CPNE1_uc002xdm.2_Silent_p.V140V|CPNE1_uc010gfk.1_Silent_p.V140V	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	140					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTCCATGGTTACTACACGAT	0.478												
RBM12	10137	broad.mit.edu	37	20	34241114	34241114	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:34241114C>A	uc002xdq.2	-	3	2363	c.2131G>T	c.(2131-2133)GGA>TGA	p.G711*	CPNE1_uc010zvj.1_Intron|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Nonsense_Mutation_p.G711*|RBM12_uc002xds.2_Nonsense_Mutation_p.G711*	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	711	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCCTTTGATCCTACAGTCAGG	0.517												
RBM39	9584	broad.mit.edu	37	20	34300954	34300954	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:34300954A>G	uc002xeb.2	-	12	1505	c.1161T>C	c.(1159-1161)TTT>TTC	p.F387F	RBM39_uc002xdz.2_Silent_p.F363F|RBM39_uc002xea.2_Silent_p.F230F|RBM39_uc010gfn.2_Silent_p.F230F|RBM39_uc010zvm.1_Silent_p.F365F|RBM39_uc002xeg.2_Silent_p.F365F|RBM39_uc002xec.2_Silent_p.F387F|RBM39_uc002xed.2_Silent_p.F105F|RBM39_uc002xee.2_Silent_p.F230F|RBM39_uc002xef.2_Silent_p.F230F|RBM39_uc010zvn.1_Silent_p.F230F	NM_184234	NP_909122	Q14498	RBM39_HUMAN	RNA binding motif protein 39 isoform a	387	Interaction with ESR1 and ESR2 (By similarity).|Interaction with JUN (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CCACAGCACCAAATGCCAAAG	0.363												
EPB41L1	2036	broad.mit.edu	37	20	34763505	34763505	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:34763505G>A	uc002xfb.2	+	3	381	c.210G>A	c.(208-210)GAG>GAA	p.E70E	EPB41L1_uc002xeu.2_Silent_p.E8E|EPB41L1_uc010zvo.1_Silent_p.E70E|EPB41L1_uc002xev.2_Silent_p.E70E|EPB41L1_uc002xew.2_Silent_p.E8E|EPB41L1_uc002xex.2_Silent_p.E39E|EPB41L1_uc002xey.2_Silent_p.E70E|EPB41L1_uc002xez.2_Silent_p.E8E	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	70					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					ACTACAGTGAGGCCGATGGCC	0.522												
C20orf117	140710	broad.mit.edu	37	20	35422787	35422787	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:35422787G>A	uc002xgd.1	-	14	3311	c.2984C>T	c.(2983-2985)CCC>CTC	p.P995L	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	995											0		Myeloproliferative disorder(115;0.00874)				CCTCCCTGGGGGGTCCTGGCA	0.662												
RPN2	6185	broad.mit.edu	37	20	35812696	35812696	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:35812696C>T	uc002xgp.2	+	2	431	c.127C>T	c.(127-129)CGC>TGC	p.R43C	RPN2_uc002xgo.3_Missense_Mutation_p.R43C|RPN2_uc010gfw.2_5'UTR|RPN2_uc002xgq.2_Missense_Mutation_p.R43C	NM_002951	NP_002942	P04844	RPN2_HUMAN	ribophorin II isoform 1 precursor	43	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				CTCGCTGGATCGCCCTTTCAC	0.542												
RPN2	6185	broad.mit.edu	37	20	35858417	35858417	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:35858417G>A	uc002xgp.2	+	13	1840	c.1536G>A	c.(1534-1536)TCG>TCA	p.S512S	RPN2_uc002xgq.2_Silent_p.S480S	NM_002951	NP_002942	P04844	RPN2_HUMAN	ribophorin II isoform 1 precursor	512	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				AAGCTCCCTCGACTGTCTTGT	0.473												
KIAA1755	85449	broad.mit.edu	37	20	36859622	36859622	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:36859622T>C	uc002xhy.1	-	5	2125	c.1853A>G	c.(1852-1854)TAC>TGC	p.Y618C	KIAA1755_uc002xhz.1_Missense_Mutation_p.Y618C	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	618										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				GGTACACAGGTAGGACAGTAG	0.632												
RALGAPB	57148	broad.mit.edu	37	20	37150172	37150172	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:37150172C>T	uc002xiw.2	+	10	1707	c.1450C>T	c.(1450-1452)CGG>TGG	p.R484W	RALGAPB_uc010zvz.1_Intron|RALGAPB_uc002xix.2_Missense_Mutation_p.R484W|RALGAPB_uc002xiy.1_Missense_Mutation_p.R484W|RALGAPB_uc002xiz.2_Missense_Mutation_p.R262W|RALGAPB_uc002xja.1_Missense_Mutation_p.R211W	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	484					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						GGAGTTTCGACGGAAAGGGTC	0.453												
RALGAPB	57148	broad.mit.edu	37	20	37175008	37175008	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:37175008G>A	uc002xiw.2	+	19	3094	c.2837G>A	c.(2836-2838)CGG>CAG	p.R946Q	RALGAPB_uc002xix.2_Missense_Mutation_p.R942Q|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.R724Q|RALGAPB_uc002xja.1_Missense_Mutation_p.R673Q	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	946					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						CATAGTTTCCGGTACTTTGTC	0.433												
RALGAPB	57148	broad.mit.edu	37	20	37179730	37179730	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:37179730C>A	uc002xiw.2	+	21	3283	c.3026C>A	c.(3025-3027)CCT>CAT	p.P1009H	RALGAPB_uc002xix.2_Missense_Mutation_p.P1005H|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.P787H	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	1009					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						GTACCTGAACCTCGCCCAGTT	0.388												
SLC32A1	140679	broad.mit.edu	37	20	37353630	37353630	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:37353630G>A	uc002xjc.2	+	1	526	c.263G>A	c.(262-264)GGC>GAC	p.G88D		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	88	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TATCAGCGAGGCAGCGGAGCT	0.672												
DHX35	60625	broad.mit.edu	37	20	37601269	37601269	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:37601269G>A	uc002xjh.2	+	3	253	c.242G>A	c.(241-243)TGT>TAT	p.C81Y	DHX35_uc010zwa.1_Translation_Start_Site|DHX35_uc010zwb.1_Translation_Start_Site|DHX35_uc010zwc.1_Intron	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	81	Helicase ATP-binding.|ATP (By similarity).					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GAAACAGGATGTGGGAAGAGC	0.358												
PLCG1	5335	broad.mit.edu	37	20	39791353	39791353	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:39791353C>T	uc002xjp.1	+	6	790	c.669C>T	c.(667-669)AGC>AGT	p.S223S	PLCG1_uc002xjo.1_Silent_p.S223S|PLCG1_uc010zwe.1_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	223					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				TCATGTACAGCGCCCAGAAGA	0.647												
CHD6	84181	broad.mit.edu	37	20	40113055	40113055	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:40113055G>A	uc002xka.1	-	15	2372	c.2194C>T	c.(2194-2196)CCC>TCC	p.P732S	CHD6_uc002xkd.2_Missense_Mutation_p.P710S	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	732					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				ATGAGATTGGGCATGTTGTGC	0.493												
PTPRT	11122	broad.mit.edu	37	20	40730915	40730915	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:40730915C>T	uc002xkg.2	-	26	3747	c.3563G>A	c.(3562-3564)CGT>CAT	p.R1188H	PTPRT_uc010ggj.2_Missense_Mutation_p.R1207H|PTPRT_uc010ggi.2_Missense_Mutation_p.R391H	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1188	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGCCGCACACGGGGTGTCAC	0.562												
L3MBTL	26013	broad.mit.edu	37	20	42143746	42143746	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:42143746G>A	uc010zwh.1	+	5	580	c.534G>A	c.(532-534)GCG>GCA	p.A178A	L3MBTL_uc010ggk.1_Silent_p.A110A|L3MBTL_uc002xkl.2_Silent_p.A110A|L3MBTL_uc002xkm.2_Silent_p.A110A|L3MBTL_uc010ggl.2_Silent_p.A110A	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	110					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACCAAGCCGCGGGTCCAGATC	0.612												
MYBL2	4605	broad.mit.edu	37	20	42328423	42328423	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:42328423C>T	uc002xlb.1	+	7	905	c.690C>T	c.(688-690)TCC>TCT	p.S230S	MYBL2_uc010zwj.1_Silent_p.S206S|MYBL2_uc002xla.1_Silent_p.S230S	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	230						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACTGGCCCTCCGTCCCTCCTA	0.443												
JPH2	57158	broad.mit.edu	37	20	42744671	42744671	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:42744671C>T	uc002xli.1	-	4	2517	c.1644G>A	c.(1642-1644)CTG>CTA	p.L548L		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	548	Pro-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCGGTGCCTGCAGAGCCTCGA	0.741												
JPH2	57158	broad.mit.edu	37	20	42788504	42788504	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:42788504C>T	uc002xli.1	-	2	1796	c.923G>A	c.(922-924)CGC>CAC	p.R308H		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	308	MORN 7.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCACTGGAGCGTTCGCTCAC	0.672												
TTPAL	79183	broad.mit.edu	37	20	43109079	43109079	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:43109079G>A	uc002xmc.1	+	3	564	c.440G>A	c.(439-441)CGC>CAC	p.R147H	TTPAL_uc002xmd.1_Missense_Mutation_p.R147H|TTPAL_uc010ggr.1_Missense_Mutation_p.A25T	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	147	CRAL-TRIO.					intracellular	transporter activity	p.R147C(1)		breast(1)	1						GTCTGCATCCGCCCAGGTATC	0.547												
PABPC1L	80336	broad.mit.edu	37	20	43545461	43545461	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:43545461C>T	uc010ggv.1	+	3	534	c.452C>T	c.(451-453)GCA>GTA	p.A151V	PABPC1L_uc010zwq.1_RNA	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	151	RRM 2.						nucleotide binding|RNA binding			ovary(1)	1						CATGAGGCCGCACAGCAGGCC	0.607												
SEMG1	6406	broad.mit.edu	37	20	43836348	43836348	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:43836348G>A	uc002xni.2	+	2	467	c.410G>A	c.(409-411)CGT>CAT	p.R137H	SEMG1_uc002xnj.2_Missense_Mutation_p.R137H|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.R137H	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I preproprotein	137					insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(2)	2		Myeloproliferative disorder(115;0.0122)				AAAGCTCATCGTGGGACACAA	0.418												
SEMG1	6406	broad.mit.edu	37	20	43836680	43836680	+	Missense_Mutation	SNP	C	C	T	rs138583556		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:43836680C>T	uc002xni.2	+	2	799	c.742C>T	c.(742-744)CAT>TAT	p.H248Y	SEMG1_uc002xnj.2_Missense_Mutation_p.H248Y|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.H248Y	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I preproprotein	248	42 AA repeat 2.				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(2)	2		Myeloproliferative disorder(115;0.0122)				CAAACTCCAACATGGATCCAA	0.398												
PIGT	51604	broad.mit.edu	37	20	44050193	44050193	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:44050193A>C	uc002xoh.1	+	9	1277	c.1204A>C	c.(1204-1206)ATC>CTC	p.I402L	PIGT_uc010ghd.1_Missense_Mutation_p.I309L|PIGT_uc010ghc.1_RNA|PIGT_uc010ghe.1_Missense_Mutation_p.I365L|PIGT_uc010ghf.1_Missense_Mutation_p.I355L|PIGT_uc002xoj.1_Intron|PIGT_uc002xok.1_Missense_Mutation_p.I367L|PIGT_uc010zwu.1_Missense_Mutation_p.I140L|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Missense_Mutation_p.I140L|PIGT_uc010zww.1_Missense_Mutation_p.I346L|PIGT_uc010zwx.1_Missense_Mutation_p.I237L|PIGT_uc010zwy.1_Missense_Mutation_p.I300L|PIGT_uc010zwz.1_Missense_Mutation_p.I140L|PIGT_uc010zxa.1_Missense_Mutation_p.I240L|PIGT_uc002xol.1_Intron|PIGT_uc010zxb.1_Missense_Mutation_p.I78L|PIGT_uc002xom.1_5'Flank	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	402	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)				CACCCTCACCATCACCTCCAA	0.607												
ZSWIM3	140831	broad.mit.edu	37	20	44505406	44505406	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:44505406C>T	uc002xqd.2	+	2	412	c.209C>T	c.(208-210)ACG>ATG	p.T70M	ZSWIM3_uc010zxg.1_Missense_Mutation_p.T64M	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	70							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				AGGAAGAGAACGCGGGAGGCA	0.478												
C20orf165	128497	broad.mit.edu	37	20	44515671	44515671	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:44515671C>T	uc002xqf.2	-	2	178	c.169G>A	c.(169-171)GCT>ACT	p.A57T		NM_080608	NP_542175	Q9BR10	CT165_HUMAN	chromosome 20 open reading frame 165	57						integral to membrane					0		Myeloproliferative disorder(115;0.0122)				GCCTGGGCAGCAGGTGCCACC	0.637												
PCIF1	63935	broad.mit.edu	37	20	44571745	44571745	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:44571745C>A	uc002xqs.2	+	8	997	c.683C>A	c.(682-684)CCT>CAT	p.P228H	PCIF1_uc002xqt.2_5'Flank	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	228						nucleus				skin(1)	1						GGCATTGAGCCTCCACGGGAG	0.552												
CD40	958	broad.mit.edu	37	20	44750990	44750990	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:44750990C>T	uc002xrg.1	+	3	326	c.249C>T	c.(247-249)TGC>TGT	p.C83C	CD40_uc002xrf.1_Silent_p.C83C|CD40_uc002xrh.1_Silent_p.C83C|CD40_uc002xri.1_Silent_p.C83C|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA	NM_001250	NP_001241	P25942	TNR5_HUMAN	CD40 antigen isoform 1 precursor	83	TNFR-Cys 2.|Extracellular (Potential).				B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			lung(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	ACAAATACTGCGACCCCAGTG	0.393									Immune_Deficiency_with_Hyper-IgM			
NCOA3	8202	broad.mit.edu	37	20	46268504	46268504	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:46268504G>A	uc002xtk.2	+	15	3096	c.2891G>A	c.(2890-2892)CGG>CAG	p.R964Q	NCOA3_uc010ght.1_Missense_Mutation_p.R959Q|NCOA3_uc002xtl.2_Missense_Mutation_p.R964Q|NCOA3_uc002xtm.2_Missense_Mutation_p.R964Q|NCOA3_uc002xtn.2_Missense_Mutation_p.R964Q|NCOA3_uc010zyc.1_Missense_Mutation_p.R759Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	964					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						TTGCCTCTTCGGTCTAATAGC	0.463												
PREX1	57580	broad.mit.edu	37	20	47253165	47253165	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:47253165C>T	uc002xtw.1	-	32	4026	c.4003G>A	c.(4003-4005)GTG>ATG	p.V1335M	PREX1_uc002xtv.1_Missense_Mutation_p.V632M	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1335					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AAGGTGCACACGGCGGCCACC	0.682												
ARFGEF2	10564	broad.mit.edu	37	20	47601337	47601337	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:47601337A>G	uc002xtx.3	+	15	2182	c.2030A>G	c.(2029-2031)GAC>GGC	p.D677G	ARFGEF2_uc010zyf.1_5'UTR	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	677	SEC7.				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCAGTTGAAGACATAGCCCAA	0.527												
CSE1L	1434	broad.mit.edu	37	20	47688880	47688880	+	Missense_Mutation	SNP	G	G	A	rs149344844		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:47688880G>A	uc002xty.2	+	9	960	c.826G>A	c.(826-828)GCA>ACA	p.A276T	CSE1L_uc010zyg.1_Missense_Mutation_p.A59T|CSE1L_uc010ghx.2_Intron|CSE1L_uc010ghy.2_5'UTR|CSE1L_uc010zyh.1_5'Flank	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	276					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TGATAATGCCGCACTCTATGC	0.403												
ZNFX1	57169	broad.mit.edu	37	20	47863850	47863850	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:47863850G>A	uc002xui.2	-	14	5958	c.5711C>T	c.(5710-5712)ACG>ATG	p.T1904M		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1904							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTTGTTGGCCGTGTCAGACCA	0.517												
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48713282	48713282	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:48713282A>G	uc002xvf.2	-	6	928	c.767T>C	c.(766-768)GTT>GCT	p.V256A	UBE2V1_uc002xvb.2_Intron|UBE2V1_uc002xva.2_Missense_Mutation_p.V33A|UBE2V1_uc002xvc.2_Intron|UBE2V1_uc002xvd.2_Missense_Mutation_p.V56A|UBE2V1_uc002xve.2_Missense_Mutation_p.V56A	NM_199203	NP_954673	Q13404	UB2V1_HUMAN	TMEM189-UBE2V1 readthrough transcript	33					cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein K63-linked ubiquitination|regulation of DNA repair|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-UEV1A complex|ubiquitin ligase complex	acid-amino acid ligase activity|protein binding				0			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			ACCCCAGCTAACTGTGCCATC	0.443												
ATP9A	10079	broad.mit.edu	37	20	50226683	50226683	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:50226683A>G	uc002xwg.1	-	24	2593	c.2593T>C	c.(2593-2595)TAC>CAC	p.Y865H	ATP9A_uc010gih.1_Missense_Mutation_p.Y729H|ATP9A_uc002xwf.1_Missense_Mutation_p.Y37H	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	865	Extracellular (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						GAGGCAAAGTAAAACACGGAG	0.388												
ZNF217	7764	broad.mit.edu	37	20	52199236	52199236	+	Missense_Mutation	SNP	C	C	T	rs141827117		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:52199236C>T	uc002xwq.3	-	1	401	c.130G>A	c.(130-132)GCT>ACT	p.A44T	ZNF217_uc010gij.1_Missense_Mutation_p.A36T	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	44					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GGAACAACAGCGGTCCCTTTC	0.478												
CBLN4	140689	broad.mit.edu	37	20	54578981	54578981	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:54578981G>A	uc002xxa.2	-	1	1032	c.247C>T	c.(247-249)CCA>TCA	p.P83S		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	83	C1q.					cell junction|extracellular region|synapse				ovary(3)|pancreas(1)	4			Colorectal(105;0.202)			ATCTCGGATGGCTCGTGGTTG	0.647												
MC3R	4159	broad.mit.edu	37	20	54824415	54824415	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:54824415C>T	uc002xxb.2	+	1	628	c.516C>T	c.(514-516)TGC>TGT	p.C172C		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	209	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			GGGTCTGCTGCGGCGTCTGTG	0.572												
AURKA	6790	broad.mit.edu	37	20	54961466	54961466	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:54961466G>A	uc002xxd.1	-	5	732	c.166C>T	c.(166-168)CGC>TGC	p.R56C	AURKA_uc002xxe.1_Missense_Mutation_p.R56C|AURKA_uc002xxf.1_Missense_Mutation_p.R56C|AURKA_uc002xxg.1_Missense_Mutation_p.R56C|AURKA_uc002xxh.1_Missense_Mutation_p.R56C|AURKA_uc002xxi.1_Missense_Mutation_p.R56C|AURKA_uc002xxj.1_Missense_Mutation_p.R56C|AURKA_uc002xxk.1_Missense_Mutation_p.R56C|AURKA_uc010zzd.1_Intron	NM_198433	NP_940835	O14965	AURKA_HUMAN	serine/threonine protein kinase 6	56					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1)	8			Colorectal(105;0.202)			AAAGGAATGCGCTGGGAAGAA	0.478												
BMP7	655	broad.mit.edu	37	20	55777645	55777645	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:55777645G>A	uc010gip.1	-	3	1175	c.646C>T	c.(646-648)CTC>TTC	p.L216F	BMP7_uc010giq.1_Missense_Mutation_p.L216F|BMP7_uc002xyc.2_Missense_Mutation_p.L216F	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	216					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			skin(1)	1	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GAGGCCCAGAGGGTACGGCTG	0.622												
APCDD1L	164284	broad.mit.edu	37	20	57042284	57042284	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:57042284G>A	uc002xze.1	-	3	805	c.619C>T	c.(619-621)CCG>TCG	p.P207S	APCDD1L_uc010zzp.1_Missense_Mutation_p.P218S	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	207						integral to membrane				ovary(1)	1	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CGGGGCTGCGGCTGCAGGCGG	0.746												
GNAS	2778	broad.mit.edu	37	20	57415808	57415808	+	Missense_Mutation	SNP	G	G	A	rs142690161		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:57415808G>A	uc002xzt.2	+	1	1014	c.647G>A	c.(646-648)CGG>CAG	p.R216Q	GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	GNAS complex locus NESP55	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAGAAGCAGCGGCGTCGCTGC	0.647			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
GNAS	2778	broad.mit.edu	37	20	57485417	57485417	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:57485417C>T	uc002xzw.2	+	12	3213	c.2928C>T	c.(2926-2928)CGC>CGT	p.R976R	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Silent_p.R274R|GNAS_uc002xzx.2_Silent_p.R274R|GNAS_uc010gjr.2_Silent_p.R224R|GNAS_uc002xzy.2_Silent_p.R259R|GNAS_uc002yaa.2_Silent_p.R319R|GNAS_uc010zzt.1_Silent_p.R334R|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Silent_p.R224R|GNAS_uc002yae.2_Silent_p.R258R	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	333					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGGACCCACGCGTGACCCGGG	0.453			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
PHACTR3	116154	broad.mit.edu	37	20	58348375	58348375	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:58348375G>A	uc002yau.2	+	6	1260	c.793G>A	c.(793-795)GAC>AAC	p.D265N	PHACTR3_uc002yat.2_Missense_Mutation_p.D262N|PHACTR3_uc010zzw.1_Missense_Mutation_p.D224N|PHACTR3_uc002yav.2_Missense_Mutation_p.D224N|PHACTR3_uc002yaw.2_Missense_Mutation_p.D224N|PHACTR3_uc002yax.2_Missense_Mutation_p.D154N	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	265						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GAAGAGTGCCGACCCTTCCCT	0.627												
SYCP2	10388	broad.mit.edu	37	20	58443592	58443592	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:58443592T>C	uc002yaz.2	-	37	4003	c.3864A>G	c.(3862-3864)ATA>ATG	p.I1288M		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1288					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTTCTATATATATTCTTTTGC	0.333												
CDH4	1002	broad.mit.edu	37	20	60485514	60485514	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:60485514G>A	uc002ybn.1	+	9	1239	c.1225G>A	c.(1225-1227)GTG>ATG	p.V409M	CDH4_uc002ybp.1_Missense_Mutation_p.V335M	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	409	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGTGGAGACCGTGGTCGCAAA	0.483												
HRH3	11255	broad.mit.edu	37	20	60791601	60791601	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:60791601C>T	uc002ycf.2	-	3	1096	c.799G>A	c.(799-801)GGG>AGG	p.G267R	HRH3_uc002ycg.2_Missense_Mutation_p.G267R|HRH3_uc002ych.2_Missense_Mutation_p.G267R|HRH3_uc002yci.2_Missense_Mutation_p.G267R	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	267	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	ATGGCCTCCCCGTGCCCCTTC	0.771												
LAMA5	3911	broad.mit.edu	37	20	60902981	60902981	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:60902981G>A	uc002ycq.2	-	36	4805	c.4738C>T	c.(4738-4740)CAC>TAC	p.H1580Y		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1580	Laminin EGF-like 15.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCGCCTCGTGACAGTCACAG	0.687												
GATA5	140628	broad.mit.edu	37	20	61048529	61048529	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:61048529C>T	uc002ycx.1	-	3	691	c.629G>A	c.(628-630)TGC>TAC	p.C210Y		NM_080473	NP_536721	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	210	GATA-type 1.				blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding				0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			GCAGGCATTGCACAGGTAGTG	0.662												
SLCO4A1	28231	broad.mit.edu	37	20	61288032	61288032	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:61288032C>T	uc002ydb.1	+	2	431	c.226C>T	c.(226-228)CGG>TGG	p.R76W	SLCO4A1_uc002ydc.1_RNA	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family	76	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(1)	1	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CCATGAGGTGCGGTACGTCTC	0.701												
COL20A1	57642	broad.mit.edu	37	20	61945176	61945176	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:61945176C>T	uc011aau.1	+	18	2391	c.2291C>T	c.(2290-2292)CCG>CTG	p.P764L	COL20A1_uc011aav.1_Missense_Mutation_p.P585L	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	764	Fibronectin type-III 6.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					TGGACGCCCCCGCTTGGCCGC	0.682												
PRIC285	85441	broad.mit.edu	37	20	62196274	62196274	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:62196274C>T	uc002yfm.2	-	9	4793	c.3901G>A	c.(3901-3903)GGC>AGC	p.G1301S	PRIC285_uc002yfl.1_Missense_Mutation_p.G732S	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1301					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TACTCCAGGCCGAGGATGCGG	0.667												
TNFRSF6B	8771	broad.mit.edu	37	20	62328129	62328129	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:62328129G>A	uc002yfy.2	+	5	443	c.9G>A	c.(7-9)GCG>GCA	p.A3A	RTEL1_uc011abd.1_3'UTR|RTEL1_uc011abe.1_3'UTR|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_3'UTR|TNFRSF6B_uc002yfz.2_Silent_p.A3A	NM_032945	NP_116563	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily,	3					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CCATGAGGGCGCTGGAGGGGC	0.697												
C20orf135	140701	broad.mit.edu	37	20	62493364	62493364	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:62493364C>T	uc002ygx.1	+	1	799	c.471C>T	c.(469-471)TTC>TTT	p.F157F		NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	hypothetical protein LOC140701	157							hydrolase activity				0	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					ACACTATGTTCATGGACCGCC	0.682												
UCKL1	54963	broad.mit.edu	37	20	62575950	62575950	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:62575950G>A	uc010gkn.2	-	6	835	c.792C>T	c.(790-792)TTC>TTT	p.F264F	UCKL1_uc002yhj.2_5'Flank|UCKL1_uc011abm.1_Silent_p.F249F|UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA|MIR647_hsa-mir-647|MI0003662_5'Flank	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	264					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGTACTGGTCGAAGGAGGGCT	0.642												
NPBWR2	2832	broad.mit.edu	37	20	62737941	62737941	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:62737941C>T	uc011abt.1	-	1	244	c.244G>A	c.(244-246)GTG>ATG	p.V82M		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	82	Helical; Name=2; (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					AGGATGAACACGTTGGTCACC	0.627												
NRIP1	8204	broad.mit.edu	37	21	16339964	16339964	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:16339964G>A	uc002yjx.2	-	4	1148	c.550C>T	c.(550-552)CAC>TAC	p.H184Y		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	184	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GTTTTTAAGTGACTTGATGCA	0.383												
ADAMTS1	9510	broad.mit.edu	37	21	28217144	28217144	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:28217144G>T	uc002ymf.2	-	1	585	c.130C>A	c.(130-132)CTG>ATG	p.L44M		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	44					integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		GACACGGCCAGTAGCGCCGCG	0.736											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KRTAP19-2	337969	broad.mit.edu	37	21	31859629	31859629	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:31859629G>A	uc011acy.1	-	1	39	c.39C>T	c.(37-39)TGC>TGT	p.C13C		NM_181608	NP_853639	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	13						intermediate filament					0						AGCCCAGTCTGCAGAAGCTGC	0.562												
TIAM1	7074	broad.mit.edu	37	21	32526612	32526612	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:32526612G>A	uc002yow.1	-	18	3596	c.3124C>T	c.(3124-3126)CGC>TGC	p.R1042C	TIAM1_uc011adk.1_Missense_Mutation_p.R1042C|TIAM1_uc011adl.1_Missense_Mutation_p.R982C	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1042	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						ATCACCTTGCGCAGCTTATCT	0.567												
SFRS15	57466	broad.mit.edu	37	21	33068890	33068890	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:33068890C>A	uc002ypd.2	-	8	1377	c.951G>T	c.(949-951)CAG>CAT	p.Q317H	SFRS15_uc002ype.2_Missense_Mutation_p.Q317H|SFRS15_uc010glu.2_Missense_Mutation_p.Q302H|SFRS15_uc002ypf.1_Translation_Start_Site	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	317						nucleus	nucleotide binding|RNA binding				0						ACAATGGTGCCTGTGGAGGAG	0.507												
ITSN1	6453	broad.mit.edu	37	21	35195847	35195847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:35195847C>T	uc002yta.1	+	25	3341	c.3073C>T	c.(3073-3075)CAA>TAA	p.Q1025*	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_Intron|ITSN1_uc002ysz.2_Intron|ITSN1_uc010gmg.2_Intron|ITSN1_uc010gmh.2_Intron|ITSN1_uc002ysw.2_Nonsense_Mutation_p.Q1025*|ITSN1_uc010gmi.2_Nonsense_Mutation_p.Q988*|ITSN1_uc010gmj.2_Nonsense_Mutation_p.Q904*|ITSN1_uc002ysy.2_Nonsense_Mutation_p.Q1020*|ITSN1_uc002ysx.2_Nonsense_Mutation_p.Q983*|ITSN1_uc002ytb.1_Nonsense_Mutation_p.Q1020*|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Intron|ITSN1_uc010gml.2_Intron|ITSN1_uc002ytj.2_Nonsense_Mutation_p.Q1020*|ITSN1_uc010gmm.1_Intron|ITSN1_uc002yte.2_Intron|ITSN1_uc002ytg.1_Intron	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	1025	SH3 3.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						AACCTTTCAGCAAGGGGATGT	0.448												
ITSN1	6453	broad.mit.edu	37	21	35237536	35237536	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:35237536G>A	uc002yta.1	+	32	4240	c.3972G>A	c.(3970-3972)CCG>CCA	p.P1324P	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Silent_p.P1319P|ITSN1_uc002ytj.2_Silent_p.P1319P|ITSN1_uc010gmm.1_RNA	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	1324	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						CACAGCTGCCGCACATGCAGC	0.597												
SETD4	54093	broad.mit.edu	37	21	37417937	37417937	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:37417937C>T	uc002yuw.1	-	5	2042	c.669G>A	c.(667-669)CCG>CCA	p.P223P	SETD4_uc002yux.1_Silent_p.P199P|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Silent_p.P223P|SETD4_uc002yuy.2_Silent_p.P223P|SETD4_uc002yuz.2_Silent_p.P199P|SETD4_uc002yva.2_Silent_p.P199P	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	SET domain containing 4 isoform a	223	SET.									large_intestine(1)|ovary(1)	2						CACAGGTGTCCGGCTCTGCAG	0.572												
DOPEY2	9980	broad.mit.edu	37	21	37623582	37623582	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:37623582G>A	uc002yvg.2	+	22	5200	c.5121G>A	c.(5119-5121)AAG>AAA	p.K1707K	DOPEY2_uc011aeb.1_Silent_p.K1656K|DOPEY2_uc002yvh.2_Silent_p.K558K	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1707					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						GTAAGATGAAGGTAAAGTTTA	0.458												
MORC3	23515	broad.mit.edu	37	21	37728931	37728931	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:37728931G>A	uc002yvi.2	+	10	1193	c.1117G>A	c.(1117-1119)GCA>ACA	p.A373T		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	373					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						TACAATAACAGCACTAGGAGA	0.274												
MORC3	23515	broad.mit.edu	37	21	37732303	37732303	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:37732303G>A	uc002yvi.2	+	11	1335	c.1259G>A	c.(1258-1260)CGG>CAG	p.R420Q		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	420	CW-type.				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						CTAAAGTGGCGGAAATTACCT	0.418												
DSCR3	10311	broad.mit.edu	37	21	38610871	38610871	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:38610871G>A	uc002ywf.1	-	4	480	c.241C>T	c.(241-243)CCG>TCG	p.P81S	DSCR3_uc010gnm.1_RNA|DSCR3_uc010gnn.1_Missense_Mutation_p.P39S|DSCR3_uc010gnl.2_Missense_Mutation_p.P81S|DSCR3_uc011aeg.1_Intron|DSCR3_uc011aeh.1_Intron	NM_006052	NP_006043	O14972	DSCR3_HUMAN	Down syndrome critical region protein 3	81					vacuolar transport	nucleus|retromer complex					0						AATTTCCCCGGCTTCACCATT	0.418												
KCNJ6	3763	broad.mit.edu	37	21	39086717	39086717	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:39086717G>A	uc011aej.1	-	3	796	c.743C>T	c.(742-744)TCG>TTG	p.S248L	KCNJ6_uc002ywo.2_Missense_Mutation_p.S248L	NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	248	Cytoplasmic (By similarity).				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1					Halothane(DB01159)	CTCCCCCTCCGAGGTCTGTTT	0.517												
KCNJ6	3763	broad.mit.edu	37	21	39087187	39087187	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:39087187G>A	uc011aej.1	-	3	326	c.273C>T	c.(271-273)TTC>TTT	p.F91F	KCNJ6_uc002ywo.2_Silent_p.F91F	NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	91	Helical; Name=M1; (By similarity).				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1					Halothane(DB01159)	TCAATAGGTTGAATCTCCACT	0.463												
DSCAM	1826	broad.mit.edu	37	21	41416137	41416137	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:41416137T>A	uc002yyq.1	-	31	5703	c.5251A>T	c.(5251-5253)ACC>TCC	p.T1751S	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1751	Cytoplasmic (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGGTTGAGGGTCCACTGGCTG	0.587												
MX2	4600	broad.mit.edu	37	21	42780117	42780117	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:42780117C>T	uc002yzf.1	+	14	2209	c.2105C>T	c.(2104-2106)GCG>GTG	p.A702V	MX2_uc002yzg.1_Missense_Mutation_p.A425V|MX2_uc010gop.1_Missense_Mutation_p.A184V	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	702	GED.				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CTCACTCAGGCGCGACACGCA	0.493												
PRDM15	63977	broad.mit.edu	37	21	43230570	43230570	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:43230570G>A	uc002yzq.1	-	28	3801	c.3690C>T	c.(3688-3690)TGC>TGT	p.C1230C	PRDM15_uc002yzo.2_Silent_p.C901C|PRDM15_uc002yzp.2_Silent_p.C921C|PRDM15_uc002yzr.1_Silent_p.C921C	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	1230	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCTTGGTCCCGCACAGCTGGC	0.657												
C2CD2	25966	broad.mit.edu	37	21	43319229	43319229	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:43319229G>A	uc002yzw.2	-	13	2045	c.1803C>T	c.(1801-1803)CCC>CCT	p.P601P	C2CD2_uc002yzs.2_Silent_p.P70P|C2CD2_uc002yzt.2_Silent_p.P217P|C2CD2_uc002yzu.2_Silent_p.P433P|C2CD2_uc002yzv.2_Silent_p.P446P	NM_015500	NP_056315	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2 isoform	601						cytosol|extracellular region|nucleus				ovary(1)	1						CATCACCGTCGGGGTCCAGCA	0.647												
RSPH1	89765	broad.mit.edu	37	21	43897403	43897403	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:43897403T>C	uc002zbg.2	-	7	830	c.725A>G	c.(724-726)GAG>GGG	p.E242G		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	242					meiosis	cytosol|nucleus				ovary(1)	1						CCCCACACTCTCAGCTCCTGG	0.657												
HSF2BP	11077	broad.mit.edu	37	21	45033778	45033778	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:45033778C>G	uc002zdi.2	-	7	957	c.625G>C	c.(625-627)GTG>CTG	p.V209L	HSF2BP_uc011aey.1_Missense_Mutation_p.V134L	NM_007031	NP_008962	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding	209					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.18)		TCCAAGAGCACCCGGCTTGAA	0.398												
TRAPPC10	7109	broad.mit.edu	37	21	45499951	45499951	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:45499951C>T	uc002zea.2	+	13	1835	c.1666C>T	c.(1666-1668)CGC>TGC	p.R556C	TRAPPC10_uc010gpo.2_Missense_Mutation_p.R267C|TRAPPC10_uc011afa.1_5'Flank	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	556					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						TGAAGAGGAGCGCAAGCACTT	0.522												
TRPM2	7226	broad.mit.edu	37	21	45826499	45826499	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:45826499T>G	uc002zet.1	+	20	3026	c.2813T>G	c.(2812-2814)CTC>CGC	p.L938R	TRPM2_uc002zeu.1_Missense_Mutation_p.L938R|TRPM2_uc002zew.1_Missense_Mutation_p.L938R|TRPM2_uc010gpt.1_Missense_Mutation_p.L938R|TRPM2_uc002zex.1_Missense_Mutation_p.L724R|TRPM2_uc002zey.1_Missense_Mutation_p.L451R	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	938	Helical; (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TTCTTCTTCCTCTTCCTGCTG	0.647												
TRPM2	7226	broad.mit.edu	37	21	45846948	45846948	+	Missense_Mutation	SNP	C	C	T	rs144290883		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:45846948C>T	uc002zet.1	+	28	4141	c.3928C>T	c.(3928-3930)CGC>TGC	p.R1310C	TRPM2_uc002zeu.1_Missense_Mutation_p.R1310C|TRPM2_uc002zew.1_Missense_Mutation_p.R1310C|TRPM2_uc010gpt.1_Missense_Mutation_p.R1360C|TRPM2_uc002zex.1_Missense_Mutation_p.R1096C|TRPM2_uc002zey.1_Intron|uc011afe.1_5'Flank|TRPM2_uc011aff.1_Intron	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1310	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCTGAGGGACCGCCGGAGCTT	0.677												
LRRC3	81543	broad.mit.edu	37	21	45876898	45876898	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:45876898G>A	uc002zfa.2	+	2	664	c.371G>A	c.(370-372)CGC>CAC	p.R124H		NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	leucine-rich repeat-containing 3 precursor	124	LRR 3.					integral to membrane	protein binding				0		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCTTACAACCGCATCCAGAGG	0.672												
C21orf29	54084	broad.mit.edu	37	21	45919682	45919682	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:45919682C>A	uc002zfe.1	-	12	2060	c.1994G>T	c.(1993-1995)CGG>CTG	p.R665L	C21orf29_uc010gpv.1_Missense_Mutation_p.R597L	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	665	EAR 7.				cell adhesion	extracellular region	structural molecule activity				0						TGTCCTCAGCCGCAGGACCCT	0.706												
KRTAP10-9	386676	broad.mit.edu	37	21	46047642	46047642	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:46047642C>A	uc002zfp.3	+	1	603	c.554C>A	c.(553-555)CCT>CAT	p.P185H	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	185	17.|25 X 5 AA repeats of C-C-X(3).					keratin filament					0						TACTGTGTGCCTGTCTGCTGT	0.602												
ADARB1	104	broad.mit.edu	37	21	46604910	46604910	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:46604910C>T	uc002zgy.2	+	9	2024	c.1589C>T	c.(1588-1590)ACG>ATG	p.T530M	ADARB1_uc002zgr.2_Missense_Mutation_p.T530M|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.T490M|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.T490M|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	530	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		GGTGAGGGGACGATTCCAGTG	0.522												
SLC19A1	6573	broad.mit.edu	37	21	46951974	46951974	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:46951974G>A	uc002zhl.1	-	3	397	c.278C>T	c.(277-279)ACG>ATG	p.T93M	SLC19A1_uc010gpy.1_Missense_Mutation_p.T93M|SLC19A1_uc011aft.1_Missense_Mutation_p.T53M|SLC19A1_uc002zhm.1_Missense_Mutation_p.T93M|SLC19A1_uc010gpz.1_Translation_Start_Site	NM_194255	NP_919231	P41440	S19A1_HUMAN	solute carrier family 19 member 1	93	Cytoplasmic (Probable).				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity				0				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CAGCACCGGCGTGTAGCGCAG	0.652												
MCM3AP	8888	broad.mit.edu	37	21	47684123	47684123	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:47684123C>A	uc002zir.1	-	13	3279	c.3243G>T	c.(3241-3243)GCG>GCT	p.A1081A	MCM3AP_uc002ziq.1_Silent_p.A8A	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	1081					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CCACCACCTGCGCCAGGTCCT	0.632												
PCNT	5116	broad.mit.edu	37	21	47754606	47754606	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:47754606G>A	uc002zji.3	+	3	670	c.563G>A	c.(562-564)AGT>AAT	p.S188N	PCNT_uc002zjj.2_Missense_Mutation_p.S70N|PCNT_uc010gqk.1_RNA	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	188					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					TTCACAGTCAGTGACCACACA	0.507												
PCNT	5116	broad.mit.edu	37	21	47832851	47832851	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:47832851C>T	uc002zji.3	+	29	6202	c.6095C>T	c.(6094-6096)TCG>TTG	p.S2032L	PCNT_uc002zjj.2_Missense_Mutation_p.S1914L	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2032					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CAGCTGCAGTCGGAGCTGCTC	0.622												
CCT8L2	150160	broad.mit.edu	37	22	17072817	17072817	+	Silent	SNP	C	C	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:17072817C>G	uc002zlp.1	-	1	884	c.624G>C	c.(622-624)CTG>CTC	p.L208L		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	208					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCCCCCCGGGCAGCGCGCACA	0.622												
CECR6	27439	broad.mit.edu	37	22	17601013	17601013	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:17601013C>T	uc002zmb.2	-	1	1201	c.1005G>A	c.(1003-1005)ACG>ACA	p.T335T	CECR6_uc002zma.2_5'UTR|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	335											0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		CTAGGATGGACGTGCCCAGGA	0.572												
CECR5	27440	broad.mit.edu	37	22	17619093	17619093	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:17619093C>A	uc002zmf.2	-	8	1118	c.1090G>T	c.(1090-1092)GGC>TGC	p.G364C	CECR5_uc002zmd.2_Missense_Mutation_p.G175C|CECR5_uc002zme.2_Missense_Mutation_p.G156C|CECR5_uc002zmg.2_Missense_Mutation_p.G164C|CECR5_uc002zmh.2_Missense_Mutation_p.G334C	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	364							hydrolase activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TTGTAGACGCCTGTACACACC	0.622												
CECR1	51816	broad.mit.edu	37	22	17670868	17670868	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:17670868T>C	uc002zmk.1	-	5	1148	c.936A>G	c.(934-936)CGA>CGG	p.R312R	CECR1_uc010gqu.1_Silent_p.R312R|CECR1_uc011agi.1_Silent_p.R270R|CECR1_uc011agj.1_3'UTR|CECR1_uc002zmj.1_Silent_p.R71R	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	312					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGAACTTGATTCGGAGCCCCA	0.572												
BCL2L13	23786	broad.mit.edu	37	22	18209583	18209583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:18209583G>A	uc002zmw.2	+	7	959	c.741G>A	c.(739-741)TGG>TGA	p.W247*	BCL2L13_uc002zmx.2_Nonsense_Mutation_p.W85*|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Nonsense_Mutation_p.W85*|BCL2L13_uc011agk.1_Nonsense_Mutation_p.W123*|BCL2L13_uc010gqz.2_5'UTR|BCL2L13_uc002zmz.2_Nonsense_Mutation_p.W85*|BCL2L13_uc002zna.2_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	247	A.				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)		CCACTTCCTGGCAGTCTGAGA	0.532												
MICAL3	57553	broad.mit.edu	37	22	18310435	18310435	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:18310435C>T	uc002zng.3	-	22	3521	c.3168G>A	c.(3166-3168)CCG>CCA	p.P1056P	MICAL3_uc011agl.1_Intron	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1056	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		ACTCAGAGGCCGGCGCCATCC	0.662												
DGCR6	8214	broad.mit.edu	37	22	18893922	18893922	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:18893922C>T	uc002zoh.3	+	1	187	c.35C>T	c.(34-36)GCG>GTG	p.A12V	DGCR6_uc002zog.2_Intron|DGCR6_uc002zoi.3_RNA	NM_005675	NP_005666	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region protein 6	12				MERYAGALEEVA -> PKGAKAGYQPRG (in Ref. 3).	cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						GAGGAGGTGGCGGACGGTGCC	0.632												
C22orf29	79680	broad.mit.edu	37	22	19839687	19839687	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:19839687G>A	uc002zqg.2	-	2	697	c.98C>T	c.(97-99)GCG>GTG	p.A33V	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Missense_Mutation_p.A33V|C22orf29_uc002zqi.2_Missense_Mutation_p.A33V|C22orf29_uc010grt.1_Intron	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	hypothetical protein LOC79680	33											0	Colorectal(54;0.0993)					CCCAGGAGACGCCTTGTCCAT	0.632												
KLHL22	84861	broad.mit.edu	37	22	20796663	20796663	+	Silent	SNP	G	G	A	rs142035823		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:20796663G>A	uc002zsl.1	-	7	1711	c.1602C>T	c.(1600-1602)CAC>CAT	p.H534H	KLHL22_uc011ahr.1_Silent_p.H391H	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	534	Kelch 5.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CAGGCTCACCGTGCCCAGCAG	0.587												
PPM1F	9647	broad.mit.edu	37	22	22300339	22300339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:22300339G>A	uc002zvp.1	-	2	196	c.82C>T	c.(82-84)CAA>TAA	p.Q28*	PPM1F_uc002zvq.2_Nonsense_Mutation_p.Q28*	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	28					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GGGAAGTCTTGCAGGAGCGTG	0.657												
PPM1F	9647	broad.mit.edu	37	22	22300347	22300347	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:22300347G>A	uc002zvp.1	-	2	188	c.74C>T	c.(73-75)ACG>ATG	p.T25M	PPM1F_uc002zvq.2_Missense_Mutation_p.T25M	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	25					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		TTGCAGGAGCGTGTCCAGGAA	0.662												
GNAZ	2781	broad.mit.edu	37	22	23438280	23438280	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:23438280C>T	uc002zwu.1	+	2	935	c.398C>T	c.(397-399)GCC>GTC	p.A133V	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	133						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CGGCTCTGGGCCGACCCAGGG	0.677												
BCR	613	broad.mit.edu	37	22	23596096	23596096	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:23596096C>T	uc002zww.2	+	2	1986	c.1390C>T	c.(1390-1392)CCC>TCC	p.P464S	BCR_uc002zwx.2_Missense_Mutation_p.P464S|BCR_uc011aiy.1_Missense_Mutation_p.P53S|BCR_uc010gtx.1_5'UTR	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	464					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						CTCCTCATCGCCCCACCTCAG	0.662			T	ABL1| FGFR1|JAK2 	CML|ALL|AML							
BCR	613	broad.mit.edu	37	22	23656168	23656168	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:23656168G>A	uc002zww.2	+	21	4067	c.3471G>A	c.(3469-3471)CCG>CCA	p.P1157P	BCR_uc002zwx.2_Silent_p.P1113P|BCR_uc011aiy.1_Silent_p.P746P	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	1157	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						TTTCAGACCCGGTTGCAAAGG	0.587			T	ABL1| FGFR1|JAK2 	CML|ALL|AML							
RGL4	266747	broad.mit.edu	37	22	24039376	24039376	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:24039376G>A	uc002zxn.2	+	8	2350	c.1180G>A	c.(1180-1182)GGG>AGG	p.G394R	LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Missense_Mutation_p.G394R|RGL4_uc002zxp.1_Missense_Mutation_p.G258R|RGL4_uc002zxq.2_Missense_Mutation_p.G258R	NM_153615	NP_705843	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation	394	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			ovary(1)	1						CCCCTTCCTGGGGGATTTTCT	0.612												
SUSD2	56241	broad.mit.edu	37	22	24583316	24583316	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:24583316G>A	uc002zzn.1	+	11	1833	c.1789G>A	c.(1789-1791)GGG>AGG	p.G597R		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	597	VWFD.|Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CGGCCTCCTCGGGACACTCAA	0.672												
CYTSA	23384	broad.mit.edu	37	22	24726395	24726395	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:24726395C>T	uc002zzw.2	+	8	2699	c.2392C>T	c.(2392-2394)CGC>TGC	p.R798C	CYTSA_uc002zzv.3_Missense_Mutation_p.R798C|CYTSA_uc011ajq.1_Missense_Mutation_p.R798C	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	798	Potential.				cell cycle|cell division						0						AATAAAGTCACGCAAGTAAGT	0.378												
GGT1	2678	broad.mit.edu	37	22	25019812	25019812	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:25019812G>A	uc003aan.1	+	11	1436	c.949G>A	c.(949-951)GTA>ATA	p.V317I	GGT1_uc003aas.1_Missense_Mutation_p.V317I|GGT1_uc003aat.1_Missense_Mutation_p.V317I|GGT1_uc003aau.1_Missense_Mutation_p.V317I|GGT1_uc003aav.1_Missense_Mutation_p.V317I|GGT1_uc003aaw.1_Missense_Mutation_p.V317I|GGT1_uc003aax.1_Missense_Mutation_p.V317I	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	317	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	CCACCGCATCGTAGAGGCTTT	0.617												
PIWIL3	440822	broad.mit.edu	37	22	25155856	25155856	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:25155856C>G	uc003abd.1	-	3	620	c.203G>C	c.(202-204)GGA>GCA	p.G68A	PIWIL3_uc011ajx.1_5'UTR|PIWIL3_uc011ajy.1_5'UTR|PIWIL3_uc010gut.1_Missense_Mutation_p.G68A	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	68					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4						TGCTCCTCCTCCTGCTCCTCC	0.587												
CRYBB2	1415	broad.mit.edu	37	22	25617439	25617439	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:25617439C>A	uc003abp.1	+	2	91	c.43C>A	c.(43-45)CTC>ATC	p.L15I		NM_000496	NP_000487	P43320	CRBB2_HUMAN	crystallin, beta B2	15	N-terminal arm.				response to stimulus|visual perception		structural constituent of eye lens				0						GCCACAGTCCCTCAACCCCAA	0.567												
HPS4	89781	broad.mit.edu	37	22	26859915	26859915	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:26859915G>A	uc003acl.2	-	11	2340	c.1681C>T	c.(1681-1683)CTG>TTG	p.L561L	HPS4_uc003aci.2_Silent_p.L556L|HPS4_uc003acj.2_Silent_p.L425L|HPS4_uc003ack.2_Silent_p.L352L|HPS4_uc003acn.2_Silent_p.L407L|HPS4_uc010gvd.1_Silent_p.L579L|HPS4_uc003ach.2_Silent_p.L296L	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	561					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						TCTCCCAGCAGCGGCTCCTCA	0.617									Hermansky-Pudlak_syndrome			
HPS4	89781	broad.mit.edu	37	22	26860019	26860019	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:26860019C>T	uc003acl.2	-	11	2236	c.1577G>A	c.(1576-1578)AGC>AAC	p.S526N	HPS4_uc003aci.2_Missense_Mutation_p.S521N|HPS4_uc003acj.2_Missense_Mutation_p.S390N|HPS4_uc003ack.2_Missense_Mutation_p.S317N|HPS4_uc003acn.2_Missense_Mutation_p.S372N|HPS4_uc010gvd.1_Missense_Mutation_p.S544N|HPS4_uc003ach.2_Missense_Mutation_p.S261N	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	526					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						CAGCCTGGAGCTGATTCCATC	0.587									Hermansky-Pudlak_syndrome			
CRYBA4	1413	broad.mit.edu	37	22	27026389	27026389	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:27026389C>T	uc003acz.3	+	6	564	c.529C>T	c.(529-531)CGG>TGG	p.R177W		NM_001886	NP_001877	P53673	CRBA4_HUMAN	crystallin, beta A4	177	Beta/gamma crystallin 'Greek key' 4.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens				0						CAAACATTTCCGGGAGTGGGG	0.567												
ZNRF3	84133	broad.mit.edu	37	22	29445399	29445399	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:29445399G>A	uc003aeg.2	+	8	1095	c.930G>A	c.(928-930)CCG>CCA	p.P310P	ZNRF3_uc003aeh.1_Silent_p.P310P	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	410	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						TCTATTCCCCGCAGACCCCCG	0.687												
RASL10A	10633	broad.mit.edu	37	22	29709555	29709555	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:29709555G>A	uc003aff.2	-	3	860	c.347C>T	c.(346-348)CCG>CTG	p.P116L	RASL10A_uc003afg.2_3'UTR	NM_006477	NP_006468	Q92737	RSLAA_HUMAN	RAS-related on chromosome 22 isoform a	116	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity				0						CGCGCCCGCCGGCCTGGGGGC	0.716												
MTMR3	8897	broad.mit.edu	37	22	30416736	30416736	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:30416736C>T	uc003agv.3	+	17	3416	c.3088C>T	c.(3088-3090)CGC>TGC	p.R1030C	MTMR3_uc003agu.3_Missense_Mutation_p.R1030C|MTMR3_uc003agw.3_Missense_Mutation_p.R1030C	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	1030	Potential.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GATCCAACAGCGCCTGCGTCA	0.572												
PES1	23481	broad.mit.edu	37	22	30980610	30980610	+	Missense_Mutation	SNP	C	C	T	rs142150429	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:30980610C>T	uc003aij.1	-	5	537	c.463G>A	c.(463-465)GTG>ATG	p.V155M	PES1_uc003aik.1_Missense_Mutation_p.V155M|PES1_uc003ail.1_Missense_Mutation_p.V155M|PES1_uc003aim.1_Missense_Mutation_p.V155M|PES1_uc003ain.1_Missense_Mutation_p.V16M|PES1_uc003aio.1_Missense_Mutation_p.V16M	NM_014303	NP_055118	O00541	PESC_HUMAN	pescadillo homolog 1, containing BRCT domain	155	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						ATGGTCTGCACGTGGCACTTG	0.617												
INPP5J	27124	broad.mit.edu	37	22	31523368	31523368	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:31523368G>A	uc003aju.3	+	6	1729	c.1637G>A	c.(1636-1638)CGC>CAC	p.R546H	INPP5J_uc003ajv.3_Missense_Mutation_p.R179H|INPP5J_uc003ajs.3_Missense_Mutation_p.R179H|INPP5J_uc011alk.1_Missense_Mutation_p.R479H|INPP5J_uc010gwg.2_Missense_Mutation_p.R111H|INPP5J_uc003ajw.2_5'UTR|INPP5J_uc003ajt.3_Missense_Mutation_p.R178H|INPP5J_uc003ajx.2_5'Flank|INPP5J_uc003ajy.2_5'Flank|INPP5J_uc003ajz.2_5'Flank	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	phosphatidylinositol (4,5) bisphosphate	546	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			skin(1)	1						GTGAGCGTGCGCCTGGCGGCC	0.637												
DEPDC5	9681	broad.mit.edu	37	22	32218710	32218710	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:32218710A>G	uc003als.2	+	24	2180	c.2038A>G	c.(2038-2040)ATG>GTG	p.M680V	DEPDC5_uc011als.1_Intron|DEPDC5_uc011alu.1_Missense_Mutation_p.M680V|DEPDC5_uc011alv.1_Intron|DEPDC5_uc003alt.2_Missense_Mutation_p.M680V|DEPDC5_uc003alu.2_Missense_Mutation_p.M120V|DEPDC5_uc003alv.2_Intron|DEPDC5_uc011alw.1_Missense_Mutation_p.M1V|DEPDC5_uc011alt.1_Intron	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	680					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						TGGTGACGGCATGTCCTTCTT	0.507												
C22orf28	51493	broad.mit.edu	37	22	32792089	32792089	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:32792089C>T	uc003amm.2	-	8	1093	c.962G>A	c.(961-963)CGC>CAC	p.R321H	C22orf28_uc011ama.1_RNA	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	hypothetical protein LOC51493	321					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding				0						CATGGAAGAGCGGTTGACCCA	0.488												
BPIL2	254240	broad.mit.edu	37	22	32841856	32841856	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:32841856C>T	uc003amn.2	-	4	502	c.502G>A	c.(502-504)GCC>ACC	p.A168T	BPIL2_uc010gwo.2_5'UTR|BPIL2_uc011amb.1_Intron	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	bactericidal/permeability-increasing	168						extracellular region	lipopolysaccharide binding|phospholipid binding			ovary(1)|skin(1)	2						GAGACGTGGGCATGGCTCAGT	0.522												
LARGE	9215	broad.mit.edu	37	22	33673216	33673216	+	Missense_Mutation	SNP	C	C	T	rs150325234		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:33673216C>T	uc003and.3	-	15	2482	c.1903G>A	c.(1903-1905)GCA>ACA	p.A635T	LARGE_uc011amd.1_Missense_Mutation_p.A434T|LARGE_uc003ane.3_Missense_Mutation_p.A635T|LARGE_uc010gwp.2_Missense_Mutation_p.A583T|LARGE_uc011ame.1_Missense_Mutation_p.A567T|LARGE_uc011amf.1_Missense_Mutation_p.A586T	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	635	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				TTTGTGGGTGCGTGGCCTTTC	0.577												
ISX	91464	broad.mit.edu	37	22	35481594	35481594	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:35481594G>T	uc003anj.2	+	4	1597	c.646G>T	c.(646-648)GGT>TGT	p.G216C	ISX_uc011amg.1_Missense_Mutation_p.G204C	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	216						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)	5						GCCTGTCCCAGGTCTTCCCAT	0.562												
EIF3D	8664	broad.mit.edu	37	22	36912576	36912576	+	Silent	SNP	G	G	A	rs117599987	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:36912576G>A	uc003apq.2	-	12	1271	c.1155C>T	c.(1153-1155)AAC>AAT	p.N385N	EIF3D_uc011amr.1_Silent_p.N212N|EIF3D_uc003apr.2_Silent_p.N385N|EIF3D_uc011ams.1_Silent_p.N288N|EIF3D_uc011amt.1_Silent_p.N336N	NM_003753	NP_003744	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3	385						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			pancreas(1)	1						ACACTTCCCCGTTGGCTCCAG	0.502												
KCTD17	79734	broad.mit.edu	37	22	37457620	37457620	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:37457620G>C	uc010gxb.2	+	8	848	c.826G>C	c.(826-828)GTG>CTG	p.V276L	KCTD17_uc011amv.1_Missense_Mutation_p.V259L|KCTD17_uc010gxc.2_Missense_Mutation_p.Q218H	NM_024681	NP_078957	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerisation domain	283	Pro-rich.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity				0						TGAGCTTGCAGTGAGGGCTTC	0.682												
TMPRSS6	164656	broad.mit.edu	37	22	37462147	37462147	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:37462147G>A	uc003aqs.1	-	18	2523	c.2409C>T	c.(2407-2409)ATC>ATT	p.I803I	TMPRSS6_uc003aqt.1_Silent_p.I816I	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	803	Peptidase S1.|Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						GGATCCAGCTGATCACACCTG	0.652												
ELFN2	114794	broad.mit.edu	37	22	37770482	37770482	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:37770482G>A	uc003asq.3	-	3	1879	c.1093C>T	c.(1093-1095)CGC>TGC	p.R365C		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	365	Fibronectin type-III.|Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					CGGCTGTTGCGCAGCGAGGTC	0.617												
GGA1	26088	broad.mit.edu	37	22	38014500	38014500	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:38014500G>A	uc003atc.2	+	4	615	c.250G>A	c.(250-252)GAA>AAA	p.E84K	GGA1_uc003atd.2_Missense_Mutation_p.E84K|GGA1_uc003ate.2_Missense_Mutation_p.E84K|GGA1_uc003atf.2_Missense_Mutation_p.E11K	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	84	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					GTTCCACGACGAAGTGGGCAA	0.632												
TRIOBP	11078	broad.mit.edu	37	22	38165112	38165112	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:38165112C>T	uc003atr.2	+	20	6924	c.6653C>T	c.(6652-6654)GCA>GTA	p.A2218V	TRIOBP_uc003atu.2_Missense_Mutation_p.A2046V|TRIOBP_uc003atw.2_Missense_Mutation_p.A505V|TRIOBP_uc003atx.1_Missense_Mutation_p.A101V|TRIOBP_uc010gxh.2_Missense_Mutation_p.A101V	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	2218	Potential.				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GAGATTGGGGCACTCATGCGG	0.667												
H1F0	3005	broad.mit.edu	37	22	38201808	38201808	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:38201808G>A	uc003aty.2	+	1	695	c.257G>A	c.(256-258)GGG>GAG	p.G86E	GCAT_uc003atz.2_5'Flank|GCAT_uc003aua.1_5'Flank	NM_005318	NP_005309	P07305	H10_HUMAN	H1 histone family, member 0	86	H15.				DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding				0	Melanoma(58;0.045)					CAGACCAAAGGGGTGGGGGCC	0.557												
BAIAP2L2	80115	broad.mit.edu	37	22	38481351	38481351	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:38481351G>A	uc003auw.2	-	14	1690	c.1546C>T	c.(1546-1548)CGT>TGT	p.R516C	SLC16A8_uc003auu.2_5'Flank|BAIAP2L2_uc003auv.2_RNA	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	516					filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)					ATGGTGGGACGAAGCTTGACA	0.612												
CSNK1E	1454	broad.mit.edu	37	22	38690122	38690122	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:38690122G>A	uc003avj.2	-	9	1472	c.1211C>T	c.(1210-1212)GCC>GTC	p.A404V	CSNK1E_uc003avk.2_Missense_Mutation_p.A404V|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.A404V|CSNK1E_uc003avn.1_Missense_Mutation_p.A88V|CSNK1E_uc003avo.2_Missense_Mutation_p.A404V	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	404					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					CACCTGTGAGGCTGGGATCCG	0.647												
CBX6	23466	broad.mit.edu	37	22	39262535	39262535	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:39262535G>A	uc003awl.2	-	5	981	c.918C>T	c.(916-918)AGC>AGT	p.S306S		NM_014292	NP_055107	O95503	CBX6_HUMAN	chromobox homolog 6	306					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex					0	Melanoma(58;0.04)					GCTCGCGCCAGCTGGGGGCGG	0.731												
CBX6	23466	broad.mit.edu	37	22	39263061	39263061	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:39263061C>T	uc003awl.2	-	5	455	c.392G>A	c.(391-393)CGC>CAC	p.R131H		NM_014292	NP_055107	O95503	CBX6_HUMAN	chromobox homolog 6	131					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex					0	Melanoma(58;0.04)					CAGGGGACGGCGGGACATACG	0.706												
CBX7	23492	broad.mit.edu	37	22	39529913	39529913	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:39529913G>A	uc003axb.2	-	6	828	c.739C>T	c.(739-741)CGC>TGC	p.R247C	CBX7_uc003axc.2_Missense_Mutation_p.R154C	NM_175709	NP_783640	O95931	CBX7_HUMAN	chromobox homolog 7	247					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				ovary(1)	1	Melanoma(58;0.04)					TTCCCACTGCGGTCTCGGAAG	0.577												
TAB1	10454	broad.mit.edu	37	22	39811635	39811635	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:39811635G>A	uc003axt.2	+	3	350	c.301G>A	c.(301-303)GAT>AAT	p.D101N	TAB1_uc003axr.2_Missense_Mutation_p.D177N|TAB1_uc011aok.1_5'UTR|TAB1_uc003axu.1_Missense_Mutation_p.D101N	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	101	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)	1						CGCCGAGGCCGATGTGCGGCG	0.647												
SGSM3	27352	broad.mit.edu	37	22	40801691	40801691	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:40801691C>G	uc003ayu.1	+	8	866	c.657C>G	c.(655-657)GAC>GAG	p.D219E	SGSM3_uc010gyc.1_Missense_Mutation_p.D219E|SGSM3_uc011aos.1_Missense_Mutation_p.D152E|SGSM3_uc011aot.1_Missense_Mutation_p.D156E|SGSM3_uc010gyd.1_Missense_Mutation_p.D219E	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	219	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						AGGAGGAGGACGCCTTCTGGA	0.572												
RANGAP1	5905	broad.mit.edu	37	22	41647028	41647028	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:41647028G>A	uc003azs.2	-	12	2936	c.1466C>T	c.(1465-1467)GCA>GTA	p.A489V	RANGAP1_uc003azt.2_Missense_Mutation_p.A489V|RANGAP1_uc003azu.2_Missense_Mutation_p.A489V|RANGAP1_uc003azr.2_Missense_Mutation_p.A2V|RANGAP1_uc010gyk.2_5'UTR|RANGAP1_uc011aoz.1_Missense_Mutation_p.A434V	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	489					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						ATCCTGCACTGCCATCCTCAC	0.557												
RANGAP1	5905	broad.mit.edu	37	22	41647047	41647047	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:41647047C>T	uc003azs.2	-	12	2917	c.1447G>A	c.(1447-1449)GAA>AAA	p.E483K	RANGAP1_uc003azt.2_Missense_Mutation_p.E483K|RANGAP1_uc003azu.2_Missense_Mutation_p.E483K|RANGAP1_uc003azr.2_5'UTR|RANGAP1_uc010gyk.2_5'UTR|RANGAP1_uc011aoz.1_Missense_Mutation_p.E428K	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	483					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						ACAGTAGCTTCGTCCTTGAAC	0.562												
RANGAP1	5905	broad.mit.edu	37	22	41676983	41676983	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:41676983C>T	uc003azs.2	-	1	1536	c.66G>A	c.(64-66)CAG>CAA	p.Q22Q	RANGAP1_uc003azt.2_Silent_p.Q22Q|RANGAP1_uc003azu.2_Silent_p.Q22Q|RANGAP1_uc011aoz.1_5'Flank	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	22					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						TGAAACTCAGCTGTCCCCCGG	0.557												
MEI1	150365	broad.mit.edu	37	22	42139162	42139162	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:42139162G>A	uc003baz.1	+	12	1435	c.1410G>A	c.(1408-1410)GCG>GCA	p.A470A	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc003bay.3_Silent_p.A470A|MEI1_uc011apd.1_Intron	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	470							binding			central_nervous_system(1)|skin(1)	2						ACCGATGTGCGGAGTTTTCCC	0.517												
MEI1	150365	broad.mit.edu	37	22	42141893	42141893	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:42141893G>A	uc003baz.1	+	14	1568	c.1543G>A	c.(1543-1545)GCT>ACT	p.A515T	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc003bay.3_Missense_Mutation_p.A515T|MEI1_uc011apd.1_RNA	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	515							binding			central_nervous_system(1)|skin(1)	2						TCTTAGGTTGGCTATAGAATT	0.502												
FAM109B	150368	broad.mit.edu	37	22	42473684	42473684	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:42473684C>T	uc003bbz.2	+	3	574	c.387C>T	c.(385-387)CGC>CGT	p.R129R	C22orf32_uc003bca.2_5'Flank	NM_001002034	NP_001002034	Q6ICB4	SESQ2_HUMAN	hypothetical protein LOC150368	129	Potential.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity				0						TGGTGGTACGCGAGTTGGAGA	0.662												
CYB5R3	1727	broad.mit.edu	37	22	43015861	43015861	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:43015861C>T	uc003bcz.2	-	9	908	c.824G>A	c.(823-825)GGC>GAC	p.G275D	CYB5R3_uc010gzc.1_Missense_Mutation_p.G149D|CYB5R3_uc003bcw.2_Missense_Mutation_p.G265D|CYB5R3_uc011aps.1_Missense_Mutation_p.G308D|CYB5R3_uc003bcy.2_Missense_Mutation_p.G252D|CYB5R3_uc003bcx.2_Missense_Mutation_p.G252D	NM_000398	NP_000389	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3 isoform m	275					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			skin(1)	1					NADH(DB00157)	GGGTGGGGGGCCACACATCAG	0.662												
CYB5R3	1727	broad.mit.edu	37	22	43019833	43019833	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:43019833C>T	uc003bcz.2	-	8	779	c.695G>A	c.(694-696)CGC>CAC	p.R232H	CYB5R3_uc010gzc.1_Missense_Mutation_p.R106H|CYB5R3_uc003bcw.2_Missense_Mutation_p.R222H|CYB5R3_uc011aps.1_Missense_Mutation_p.R265H|CYB5R3_uc003bcy.2_Missense_Mutation_p.R209H|CYB5R3_uc003bcx.2_Missense_Mutation_p.R209H	NM_000398	NP_000389	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3 isoform m	232					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			skin(1)	1					NADH(DB00157)	GAGCTTGAAGCGTGCAGAATG	0.612												
PNPLA5	150379	broad.mit.edu	37	22	44287022	44287022	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:44287022G>A	uc003beg.2	-	2	443	c.346C>T	c.(346-348)CTG>TTG	p.L116L	PNPLA5_uc011aqc.1_5'UTR|PNPLA5_uc003beh.2_Intron	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	116	Patatin.				lipid catabolic process		hydrolase activity				0		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GAAATGCCCAGCCGCTGGGAG	0.677												
SAMM50	25813	broad.mit.edu	37	22	44385033	44385033	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:44385033A>G	uc003bej.2	+	13	1315	c.1118A>G	c.(1117-1119)CAC>CGC	p.H373R	SAMM50_uc011aqd.1_Missense_Mutation_p.H163R|SAMM50_uc003bek.2_Missense_Mutation_p.H178R	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	sorting and assembly machinery component 50	373					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			skin(1)	1		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GGCGGCCTGCACCTCTACACC	0.532												
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45243858	45243858	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:45243858C>T	uc003bfd.2	+	14	1578	c.1306C>T	c.(1306-1308)CGC>TGC	p.R436C	PRR5-ARHGAP8_uc003bfc.2_Missense_Mutation_p.R357C|PRR5-ARHGAP8_uc011aqi.1_Missense_Mutation_p.R348C|PRR5-ARHGAP8_uc011aqj.1_Missense_Mutation_p.R262C|ARHGAP8_uc003bfi.2_Missense_Mutation_p.R226C|ARHGAP8_uc010gzv.2_Missense_Mutation_p.R226C|ARHGAP8_uc003bfj.2_Missense_Mutation_p.R257C|ARHGAP8_uc003bfk.2_Missense_Mutation_p.R226C|ARHGAP8_uc003bfl.2_RNA	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2						TGCAGGCCTGCGCACCGAGGG	0.642												
PHF21B	112885	broad.mit.edu	37	22	45309752	45309752	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:45309752C>T	uc003bfn.2	-	5	932	c.781G>A	c.(781-783)GCC>ACC	p.A261T	PHF21B_uc003bfm.2_Missense_Mutation_p.A57T|PHF21B_uc011aqk.1_Missense_Mutation_p.A207T|PHF21B_uc011aql.1_Missense_Mutation_p.A219T|PHF21B_uc011aqm.1_Missense_Mutation_p.A207T	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	PHD finger protein 21B isoform 1	261							zinc ion binding			ovary(2)|skin(1)	3		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TTTTTGGTGGCCTGAGCTCCC	0.642												
TRMU	55687	broad.mit.edu	37	22	46742425	46742425	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:46742425G>A	uc003bhp.2	+	4	826	c.462G>A	c.(460-462)CGG>CGA	p.R154R	TRMU_uc011arb.1_Silent_p.R154R|TRMU_uc003bhq.2_5'UTR|TRMU_uc003bhs.2_Silent_p.R154R|TRMU_uc003bhr.2_Silent_p.R40R|TRMU_uc003bht.2_Missense_Mutation_p.G27D|TRMU_uc003bhu.2_5'UTR|TRMU_uc003bhv.2_Missense_Mutation_p.G27D	NM_018006	NP_060476	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate	154						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			ovary(1)	1		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TCAGAAATCGGTTTGAAGTTA	0.453												
GRAMD4	23151	broad.mit.edu	37	22	47069661	47069661	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:47069661G>A	uc003bhx.2	+	14	1373	c.1334G>A	c.(1333-1335)GGC>GAC	p.G445D	GRAMD4_uc010had.2_Missense_Mutation_p.G384D|GRAMD4_uc003bhy.2_5'Flank	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	445	GRAM.				apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		ACCAAGAAGGGCAATTTCCAC	0.617												
BRD1	23774	broad.mit.edu	37	22	50217466	50217466	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50217466T>A	uc003biv.2	-	1	987	c.500A>T	c.(499-501)GAG>GTG	p.E167V	BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Missense_Mutation_p.E167V|BRD1_uc011arh.1_Missense_Mutation_p.E167V|BRD1_uc003biu.3_Missense_Mutation_p.E167V	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	167					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ATTGACGATCTCCAGCCAGGC	0.577												
ALG12	79087	broad.mit.edu	37	22	50301494	50301494	+	Silent	SNP	G	G	A	rs147801200	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50301494G>A	uc003biy.2	-	7	1141	c.867C>T	c.(865-867)CAC>CAT	p.H289H		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12	289					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane					0		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CCGTCGGCGCGTGCGTCCTTC	0.617												
MOV10L1	54456	broad.mit.edu	37	22	50563916	50563916	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50563916C>T	uc003bjj.2	+	11	1748	c.1665C>T	c.(1663-1665)AGC>AGT	p.S555S	MOV10L1_uc003bjk.3_Silent_p.S555S|MOV10L1_uc011arp.1_Silent_p.S535S|MOV10L1_uc011arq.1_Silent_p.S316S|MOV10L1_uc010hao.1_RNA	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	555					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ATAACATGAGCGGGATCATCT	0.463												
SAPS2	9701	broad.mit.edu	37	22	50876602	50876602	+	Splice_Site	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50876602G>A	uc003blb.1	+	19	2262	c.1840_splice	c.e19-1	p.P614_splice	SAPS2_uc003bky.1_Splice_Site_p.P587_splice|SAPS2_uc003bkz.1_Splice_Site_p.P587_splice|SAPS2_uc003blc.2_Splice_Site_p.P614_splice|SAPS2_uc003bla.1_Splice_Site_p.P588_splice|SAPS2_uc003bld.1_Splice_Site_p.P146_splice	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2							cytoplasm|intracellular membrane-bounded organelle	protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.222)		TTACTCTGCAGCCCAGCGCAG	0.592												
SBF1	6305	broad.mit.edu	37	22	50892959	50892959	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50892959G>T	uc003blh.2	-	36	5220	c.5025C>A	c.(5023-5025)GCC>GCA	p.A1675A	SBF1_uc003ble.2_Silent_p.A139A|SBF1_uc003blf.2_Silent_p.A151A|SBF1_uc011arx.1_Silent_p.A1313A	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1649					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGCGTGAGATGGCGTCAGGCT	0.672												
SBF1	6305	broad.mit.edu	37	22	50893457	50893457	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50893457G>A	uc003blh.2	-	34	4864	c.4669C>T	c.(4669-4671)CGC>TGC	p.R1557C	SBF1_uc003ble.2_Missense_Mutation_p.R33C|SBF1_uc003blf.2_Missense_Mutation_p.R33C|SBF1_uc011arx.1_Missense_Mutation_p.R1195C	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1531	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AGCTCAATGCGCTCATAGTCA	0.612												
MIOX	55586	broad.mit.edu	37	22	50925882	50925882	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50925882C>A	uc003bll.1	+	2	198	c.84C>A	c.(82-84)TTC>TTA	p.F28L	MIOX_uc003blm.1_Missense_Mutation_p.F28L|MIOX_uc003bln.1_Missense_Mutation_p.F28L	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	28					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity				0		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGCCAGCTTCCGGAACTACA	0.617												
LMF2	91289	broad.mit.edu	37	22	50943916	50943916	+	Missense_Mutation	SNP	C	C	T	rs116898513	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50943916C>T	uc003blp.2	-	7	998	c.967G>A	c.(967-969)GTC>ATC	p.V323I	LMF2_uc010hba.2_Missense_Mutation_p.V145I|LMF2_uc003blo.2_Missense_Mutation_p.V298I|NCAPH2_uc003blq.3_5'Flank|NCAPH2_uc003blv.2_5'Flank|NCAPH2_uc003blr.3_5'Flank|NCAPH2_uc010hbb.2_5'Flank|NCAPH2_uc003blu.3_5'Flank|NCAPH2_uc003bls.3_5'Flank|NCAPH2_uc003blt.3_5'Flank|NCAPH2_uc003blw.3_5'Flank|NCAPH2_uc003blx.3_5'Flank|NCAPH2_uc003bly.3_5'Flank	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	323	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane				breast(1)	1		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCCCGTAGACGGCTAGTTCC	0.652												
SHANK3	85358	broad.mit.edu	37	22	51117057	51117057	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:51117057G>A	uc003bne.1	+	4	384	c.384G>A	c.(382-384)ACG>ACA	p.T128T		NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	128										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TGCATAGCACGGACAAGGTGG	0.597												
CNTN6	27255	broad.mit.edu	37	3	1363376	1363376	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:1363376G>A	uc003boz.2	+	8	1071	c.804G>A	c.(802-804)CCG>CCA	p.P268P	CNTN6_uc011asj.1_Silent_p.P196P|CNTN6_uc003bpa.2_Silent_p.P268P	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	268	Ig-like C2-type 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ACGGGAGCCCGTTGCCAGGGA	0.433												
GRM7	2917	broad.mit.edu	37	3	7620162	7620162	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:7620162C>T	uc003bqm.2	+	8	1843	c.1569C>T	c.(1567-1569)TGC>TGT	p.C523C	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.C523C|GRM7_uc003bql.2_Silent_p.C523C|GRM7_uc003bqn.1_Silent_p.C106C|GRM7_uc010hch.1_Silent_p.C34C	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	523	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	CCTCAGTGTGCACACTACCAT	0.468												
LMCD1	29995	broad.mit.edu	37	3	8609216	8609216	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:8609216G>A	uc003bqq.2	+	6	1144	c.1030G>A	c.(1030-1032)GGC>AGC	p.G344S	LMCD1_uc011atd.1_Missense_Mutation_p.G271S|LMCD1_uc011ate.1_Missense_Mutation_p.G232S	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	344	LIM zinc-binding 2.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GCTGCTGAGCGGCCGGGCGTA	0.587												
SETD5	55209	broad.mit.edu	37	3	9490131	9490131	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:9490131C>T	uc003brt.2	+	16	2598	c.2163C>T	c.(2161-2163)TGC>TGT	p.C721C	SETD5_uc003brs.1_Silent_p.C702C|SETD5_uc003bru.2_Silent_p.C623C|SETD5_uc003brv.2_Silent_p.C610C|SETD5_uc010hck.2_Silent_p.C203C|SETD5_uc003brx.2_Silent_p.C390C	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	721										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CTGTTGAGTGCCCTTTACGTA	0.418												
BRPF1	7862	broad.mit.edu	37	3	9786044	9786044	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:9786044G>T	uc003bse.2	+	9	3153	c.2754G>T	c.(2752-2754)CAG>CAT	p.Q918H	BRPF1_uc003bsf.2_Missense_Mutation_p.Q924H|BRPF1_uc003bsg.2_Missense_Mutation_p.Q917H|BRPF1_uc011ati.1_Intron	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	918	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					GGGAGAGCCAGATGACCCCCA	0.662												
VHL	7428	broad.mit.edu	37	3	10188237	10188237	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:10188237G>T	uc003bvc.2	+	2	593	c.380G>T	c.(379-381)GGG>GTG	p.G127V	VHL_uc003bvd.2_Intron	NM_000551	NP_000542	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor isoform 1	127	Involved in binding to CCT complex.				anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.G127fs*4(1)|p.G127fs*5(1)		kidney(1273)|soft_tissue(24)|adrenal_gland(15)|large_intestine(13)|pancreas(5)|endometrium(4)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(2)|lung(2)|pleura(1)|paratesticular_tissues(1)	1346				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ACACACGATGGGCTTCTGGTT	0.413		1	D|Mis|N|F|S		renal|hemangioma|pheochromocytoma	renal|hemangioma|pheochromocytoma			von_Hippel-Lindau_disease|Chuvash_Polycythemia_|Pheochromocytoma_(Adrenal)_Familial			
TATDN2	9797	broad.mit.edu	37	3	10312520	10312520	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:10312520T>C	uc003bvg.2	+	4	2235	c.1654T>C	c.(1654-1656)TTG>CTG	p.L552L	TATDN2_uc003bvf.2_Silent_p.L552L|TATDN2_uc011atr.1_Silent_p.L552L|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	NM_014760	NP_055575	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	552						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			pancreas(2)	2						GGAGGAGCTGTTGAAAGAGGA	0.488												
ATP2B2	491	broad.mit.edu	37	3	10370624	10370624	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:10370624C>T	uc003bvt.2	-	23	4045	c.3606G>A	c.(3604-3606)CCG>CCA	p.P1202P	ATP2B2_uc003bvv.2_Silent_p.P1157P|ATP2B2_uc003bvw.2_Silent_p.P1157P|ATP2B2_uc003bvs.2_RNA|ATP2B2_uc010hdo.2_Silent_p.P907P|hsa-mir-378b|MI0014154_5'Flank	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1202	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GGGATGACGGCGGGCTCGAGT	0.562												
ATP2B2	491	broad.mit.edu	37	3	10430087	10430087	+	Splice_Site	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:10430087C>A	uc003bvt.2	-	6	1221	c.782_splice	c.e6-1	p.G261_splice	ATP2B2_uc003bvv.2_Splice_Site_p.G261_splice|ATP2B2_uc003bvw.2_Splice_Site_p.G261_splice|ATP2B2_uc010hdp.2_Intron|ATP2B2_uc010hdo.2_Splice_Site	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1						ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						ACGTGGGTTCCTGGGAAAGGG	0.542												
IQSEC1	9922	broad.mit.edu	37	3	12949922	12949922	+	Silent	SNP	G	G	A	rs140575923		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:12949922G>A	uc003bxt.2	-	12	2733	c.2724C>T	c.(2722-2724)GAC>GAT	p.D908D	IQSEC1_uc003bxu.3_Silent_p.D786D|IQSEC1_uc011auw.1_Silent_p.D894D	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	908					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						CATAGCTGTCGTCCAGGCAGG	0.637												
NUP210	23225	broad.mit.edu	37	3	13384782	13384782	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:13384782A>G	uc003bxv.1	-	21	2940	c.2857T>C	c.(2857-2859)TCA>CCA	p.S953P		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	953	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					ATGGTGGATGAGCCCGGGAGC	0.617												
GRIP2	80852	broad.mit.edu	37	3	14549157	14549157	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:14549157G>A	uc011avi.1	-	19	2424	c.2424C>T	c.(2422-2424)AGC>AGT	p.S808S	GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Silent_p.S339S	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	710	PDZ 6.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						GGCCCTTGAGGCTAACGTTGT	0.592												
FGD5	152273	broad.mit.edu	37	3	14964573	14964573	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:14964573G>A	uc003bzc.2	+	16	3938	c.3828G>A	c.(3826-3828)TCG>TCA	p.S1276S	FGD5_uc011avk.1_Silent_p.S1276S|FGD5_uc003bzd.2_Silent_p.S354S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1276	FYVE-type.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						GGAACTGTTCGCGGAACAAGT	0.637												
ZFYVE20	64145	broad.mit.edu	37	3	15119666	15119666	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:15119666G>T	uc003bzm.1	-	11	1528	c.914C>A	c.(913-915)GCT>GAT	p.A305D	ZFYVE20_uc010hek.1_Missense_Mutation_p.A305D	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	305	Necessary for the interaction with RAB4A.|Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						TGTCTCCCCAGCACTAAGGAG	0.478												
CAPN7	23473	broad.mit.edu	37	3	15274039	15274039	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:15274039A>G	uc003bzn.2	+	10	1316	c.1046A>G	c.(1045-1047)GAC>GGC	p.D349G		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	calpain 7	349	Calpain catalytic.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1						ATAATTGATGACCAGTTACCT	0.333												
GALNTL2	117248	broad.mit.edu	37	3	16217062	16217062	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:16217062G>T	uc003car.3	+	1	879	c.404G>T	c.(403-405)TGG>TTG	p.W135L	GALNTL2_uc003caq.3_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	135	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						AAGAGGGACTGGGGGGCTGAT	0.642												
ZNF385D	79750	broad.mit.edu	37	3	21606141	21606141	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:21606141T>C	uc003cce.2	-	3	609	c.201A>G	c.(199-201)ACA>ACG	p.T67T	ZNF385D_uc010hfb.1_RNA	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	67						nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						GAACCCCGAATGTATGGTTTA	0.353												
THRB	7068	broad.mit.edu	37	3	24193953	24193953	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:24193953G>A	uc003ccx.3	-	6	661	c.312C>T	c.(310-312)GAC>GAT	p.D104D	THRB_uc010hfe.2_Silent_p.D104D|THRB_uc003ccy.3_Silent_p.D104D|THRB_uc003ccz.3_Silent_p.D99D|THRB_uc003cdc.2_Silent_p.D99D|THRB_uc003cdd.2_Silent_p.D99D|THRB_uc003cde.1_Silent_p.D99D|THRB_uc003cda.1_Silent_p.D119D	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	104	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	CACAGAGCTCGTCCTTGTCTA	0.438												
TGFBR2	7048	broad.mit.edu	37	3	30648432	30648432	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:30648432T>C	uc003ceo.2	+	1	439	c.57T>C	c.(55-57)CGT>CGC	p.R19R	TGFBR2_uc003cen.2_Silent_p.R19R	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	19					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						TGTGGACGCGTATCGCCAGCA	0.721												
TGFBR2	7048	broad.mit.edu	37	3	30729962	30729962	+	Nonsense_Mutation	SNP	C	C	T	rs104893819		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:30729962C>T	uc003ceo.2	+	6	1865	c.1483C>T	c.(1483-1485)CGA>TGA	p.R495*	TGFBR2_uc003cen.2_Nonsense_Mutation_p.R520*	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	495	Protein kinase.|Cytoplasmic (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.R495*(1)		pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						GTTGAGAGATCGAGGGCGACC	0.493												
OSBPL10	114884	broad.mit.edu	37	3	31725151	31725151	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:31725151G>A	uc003cev.2	-	9	2082	c.1701C>T	c.(1699-1701)TCC>TCT	p.S567S	OSBPL10_uc003ceu.1_Silent_p.S324S|OSBPL10_uc011axf.1_Silent_p.S503S	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	567					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)		AGACCCCCACGGACATGCCCA	0.478												
CMTM8	152189	broad.mit.edu	37	3	32398895	32398895	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:32398895G>A	uc003cex.2	+	2	472	c.178G>A	c.(178-180)GCT>ACT	p.A60T	CMTM8_uc010hfu.2_Intron	NM_178868	NP_849199	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing	60	Helical; (Potential).|MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0						GACGCTTATTGCTGGAACTGA	0.483												
CMTM6	54918	broad.mit.edu	37	3	32544163	32544163	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:32544163G>A	uc003cfa.1	-	1	241	c.75C>T	c.(73-75)CTC>CTT	p.L25L		NM_017801	NP_060271	Q9NX76	CKLF6_HUMAN	CKLF-like MARVEL transmembrane domain containing	25					chemotaxis	extracellular space|integral to membrane	cytokine activity				0						AGTAGGCAGCGAGGCCGCTCC	0.731												
TMPPE	643853	broad.mit.edu	37	3	33135617	33135617	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:33135617A>G	uc003cfk.2	-	2	262	c.71T>C	c.(70-72)ATG>ACG	p.M24T	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Intron	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN	transmembrane protein with	24	Helical; (Potential).					integral to membrane	metal ion binding				0						GGAGGCGATCATGGACACGAA	0.602												
UBP1	7342	broad.mit.edu	37	3	33467186	33467186	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:33467186G>T	uc003cfq.3	-	2	691	c.161C>A	c.(160-162)CCA>CAA	p.P54Q	UBP1_uc003cfr.3_Missense_Mutation_p.P54Q|UBP1_uc010hga.2_Missense_Mutation_p.P54Q	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a) isoform a	54					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			kidney(2)	2						ACCATCCAATGGAAGGCTGGA	0.418												
ARPP21	10777	broad.mit.edu	37	3	35778784	35778784	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:35778784A>G	uc003cgb.2	+	16	1838	c.1574A>G	c.(1573-1575)CAG>CGG	p.Q525R	ARPP21_uc003cga.2_Missense_Mutation_p.Q471R|ARPP21_uc011axy.1_Missense_Mutation_p.Q491R|ARPP21_uc003cgf.2_Missense_Mutation_p.Q326R|ARPP21_uc003cgg.2_Missense_Mutation_p.Q13R	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	525	Gln-rich.					cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						CCACAGCAGCAGCCCTCCCCG	0.647												
DCLK3	85443	broad.mit.edu	37	3	36756838	36756838	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:36756838A>G	uc003cgi.2	-	5	2419	c.1928T>C	c.(1927-1929)GTT>GCT	p.V643A		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	643						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						CTGCTCCACAACCCTCTTGTG	0.522												
TRANK1	9881	broad.mit.edu	37	3	36897282	36897282	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:36897282G>A	uc003cgj.2	-	3	2451	c.2149C>T	c.(2149-2151)CGT>TGT	p.R717C		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1267					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TCACCCGTACGCATTTCTACA	0.512												
ITGA9	3680	broad.mit.edu	37	3	37574880	37574880	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:37574880C>T	uc003chd.2	+	14	1502	c.1449C>T	c.(1447-1449)CAC>CAT	p.H483H	ITGA9_uc003chc.2_Silent_p.H483H	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	483	Extracellular (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CTCAGTGTCACGACGGACAGC	0.562												
MYD88	4615	broad.mit.edu	37	3	38181445	38181445	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:38181445G>A	uc003chx.2	+	2	642	c.458G>A	c.(457-459)CGG>CAG	p.R153Q	ACAA1_uc003cht.2_5'Flank|ACAA1_uc003chu.2_5'Flank|ACAA1_uc010hgy.2_5'Flank|ACAA1_uc010hgz.2_5'Flank|ACAA1_uc003chv.2_5'Flank|MYD88_uc011ayh.1_Missense_Mutation_p.R153Q|MYD88_uc011ayi.1_Missense_Mutation_p.R153Q|MYD88_uc011ayj.1_Missense_Mutation_p.R153Q|MYD88_uc011ayk.1_Intron|MYD88_uc011ayl.1_Intron	NM_002468	NP_002459	Q99836	MYD88_HUMAN	myeloid differentiation primary response gene	140	Intermediate domain (By similarity).				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(93)|breast(1)	94				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGTGTCCCACGGACAGCAGAG	0.542			Mis 		ABC-DLBCL							
MYD88	4615	broad.mit.edu	37	3	38182637	38182637	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:38182637C>T	uc003chx.2	+	5	998	c.814C>T	c.(814-816)CGA>TGA	p.R272*	MYD88_uc011ayi.1_Nonsense_Mutation_p.R264*|MYD88_uc011ayj.1_Silent_p.S203S|MYD88_uc011ayk.1_Silent_p.S158S|MYD88_uc011ayl.1_Nonsense_Mutation_p.R219*	NM_002468	NP_002459	Q99836	MYD88_HUMAN	myeloid differentiation primary response gene	251	TIR.				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(93)|breast(1)	94				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCATCAGAAGCGACTGATCCC	0.552			Mis 		ABC-DLBCL							
XYLB	9942	broad.mit.edu	37	3	38416746	38416746	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:38416746C>A	uc003cic.2	+	12	1109	c.1000C>A	c.(1000-1002)CTG>ATG	p.L334M	XYLB_uc011ayp.1_Missense_Mutation_p.L197M|XYLB_uc003cid.1_Missense_Mutation_p.L256M	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	334					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CATGGCACTCCTGTGGTGAGC	0.582												
SCN5A	6331	broad.mit.edu	37	3	38592944	38592944	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:38592944G>C	uc003cio.2	-	28	5113	c.4919C>G	c.(4918-4920)GCC>GGC	p.A1640G	SCN5A_uc003cin.2_Missense_Mutation_p.A1639G|SCN5A_uc003cil.3_Missense_Mutation_p.A1640G|SCN5A_uc010hhi.2_Missense_Mutation_p.A1622G|SCN5A_uc010hhk.2_Missense_Mutation_p.A1607G|SCN5A_uc011ayr.1_Missense_Mutation_p.A1586G	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1640	Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GATCCCCTTGGCCCCTCGGAT	0.587												
SCN5A	6331	broad.mit.edu	37	3	38655264	38655264	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:38655264G>A	uc003cio.2	-	6	867	c.673C>T	c.(673-675)CGG>TGG	p.R225W	SCN5A_uc003cin.2_Missense_Mutation_p.R225W|SCN5A_uc003cil.3_Intron|SCN5A_uc010hhi.2_Intron|SCN5A_uc010hhk.2_Intron|SCN5A_uc011ayr.1_Intron|SCN5A_uc010hhl.1_Intron	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	225	Helical; Voltage-sensor; Name=S4 of repeat I; (Potential).		R -> W (in PFHB1A).|R -> Q (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TTCAGGGCCCGGAGGACTCGG	0.493												
TTC21A	199223	broad.mit.edu	37	3	39178436	39178436	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:39178436C>T	uc003cjc.2	+	24	3340	c.3163C>T	c.(3163-3165)CGC>TGC	p.R1055C	TTC21A_uc003cje.2_Missense_Mutation_p.R1056C|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.R1007C|TTC21A_uc003cjf.2_Missense_Mutation_p.R176C	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	1055	TPR 16.						binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAACAAGGCACGCAAGGACAG	0.478												
TTC21A	199223	broad.mit.edu	37	3	39178807	39178807	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:39178807C>T	uc003cjc.2	+	25	3577	c.3400C>T	c.(3400-3402)CGG>TGG	p.R1134W	TTC21A_uc003cje.2_Missense_Mutation_p.R1135W|TTC21A_uc003cjd.2_Intron|TTC21A_uc011ayx.1_Missense_Mutation_p.R1086W|TTC21A_uc003cjf.2_Missense_Mutation_p.R255W	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	1134							binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGGCCTCTGCCGGCTGGCCAC	0.647												
XIRP1	165904	broad.mit.edu	37	3	39225733	39225733	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:39225733G>T	uc003cjk.1	-	2	5425	c.5204C>A	c.(5203-5205)CCT>CAT	p.P1735H	XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Missense_Mutation_p.P418H	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1735	Interaction with FLNC.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGCTGAGGGAGGGGCAGGTTC	0.587												
CTNNB1	1499	broad.mit.edu	37	3	41267268	41267268	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:41267268C>T	uc010hia.1	+	7	1008	c.852C>T	c.(850-852)GCC>GCT	p.A284A	CTNNB1_uc003ckp.2_Silent_p.A284A|CTNNB1_uc003ckq.2_Silent_p.A284A|CTNNB1_uc003ckr.2_Silent_p.A284A|CTNNB1_uc011azf.1_Silent_p.A277A|CTNNB1_uc011azg.1_Silent_p.A212A|uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	284	ARM 4.				adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	AAATGGTTGCCTTGCTCAACA	0.383		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of			
TRAK1	22906	broad.mit.edu	37	3	42166997	42166997	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:42166997C>T	uc003cky.2	+	2	393	c.177C>T	c.(175-177)GAC>GAT	p.D59D	TRAK1_uc011azh.1_Silent_p.D59D|TRAK1_uc011azi.1_Silent_p.D59D	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	59	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						TAAGAGCCGACACCATCTACG	0.483												
VIPR1	7433	broad.mit.edu	37	3	42572370	42572370	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:42572370G>A	uc003clf.2	+	7	860	c.736G>A	c.(736-738)GTC>ATC	p.V246I	VIPR1_uc011azl.1_Missense_Mutation_p.V198I|VIPR1_uc011azm.1_Silent_p.P42P|VIPR1_uc011azn.1_Missense_Mutation_p.V219I|VIPR1_uc003clg.2_5'Flank	NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	246	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCTGCTTGCCGTCTCCTTCTT	0.567												
NKTR	4820	broad.mit.edu	37	3	42662950	42662950	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:42662950G>A	uc003clo.2	+	6	463	c.316G>A	c.(316-318)GCG>ACG	p.A106T	NKTR_uc003cll.1_3'UTR|NKTR_uc003clm.1_5'UTR|NKTR_uc003clp.2_5'UTR|NKTR_uc011azp.1_5'UTR|NKTR_uc003clq.1_5'UTR	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	106	PPIase cyclophilin-type.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ACATGACAGAGCGTTCCTTTT	0.333												
NKTR	4820	broad.mit.edu	37	3	42679755	42679755	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:42679755C>T	uc003clo.2	+	13	2706	c.2559C>T	c.(2557-2559)TGC>TGT	p.C853C	NKTR_uc003clm.1_Silent_p.C600C|NKTR_uc003clp.2_Silent_p.C600C|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Silent_p.C743C|NKTR_uc003clr.1_Silent_p.C600C|NKTR_uc003cls.2_Silent_p.C553C	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	853					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AACGGGAATGCCCTCATTCAA	0.383												
ZNF502	91392	broad.mit.edu	37	3	44763241	44763241	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:44763241C>T	uc011baa.1	+	4	1187	c.932C>T	c.(931-933)ACG>ATG	p.T311M	ZNF502_uc003cns.2_Missense_Mutation_p.T311M|ZNF502_uc011bab.1_Missense_Mutation_p.T311M|ZNF502_uc003cnt.2_Missense_Mutation_p.T311M	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	311	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TCAAATCTTACGCAACATCAG	0.403												
LIMD1	8994	broad.mit.edu	37	3	45636943	45636943	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:45636943G>A	uc003coq.2	+	1	621	c.572G>A	c.(571-573)GGT>GAT	p.G191D		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	191					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCAAAGTGGGGTGACAAACCA	0.607												
CCRL2	9034	broad.mit.edu	37	3	46450555	46450555	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:46450555T>C	uc003cpp.3	+	2	1270	c.985T>C	c.(985-987)TCT>CCT	p.S329P	CCRL2_uc010hjg.2_Missense_Mutation_p.S341P|CCRL2_uc010hjf.2_Missense_Mutation_p.S329P	NM_003965	NP_003956	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2 isoform 1	329	Cytoplasmic (Potential).				chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		CAGGGGGCAGTCTGCACAAGG	0.473												
ALS2CL	259173	broad.mit.edu	37	3	46722884	46722884	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:46722884C>T	uc003cqa.1	-	13	1478	c.1288G>A	c.(1288-1290)GAG>AAG	p.E430K	ALS2CL_uc003cpz.1_5'UTR|ALS2CL_uc003cqb.1_Missense_Mutation_p.E430K|ALS2CL_uc003cqc.1_RNA	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	430	MORN 3.			E -> G (in Ref. 2; BAD18448).	endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TTGTACACCTCGTCGGTGCTG	0.652												
CCDC12	151903	broad.mit.edu	37	3	46963601	46963601	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:46963601G>A	uc003cqo.2	-	7	495	c.486C>T	c.(484-486)AGC>AGT	p.S162S		NM_144716	NP_653317	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	149											0		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		CAGAGGCTAGGCTGTCTTCCT	0.642												
NBEAL2	23218	broad.mit.edu	37	3	47045630	47045630	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:47045630A>G	uc003cqp.2	+	37	6124	c.5945A>G	c.(5944-5946)AAC>AGC	p.N1982S	NBEAL2_uc010hjm.1_Missense_Mutation_p.N1359S|NBEAL2_uc010hjn.1_Missense_Mutation_p.N378S|NBEAL2_uc010hjo.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1982							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CGGCGTTTCAACCTGCGCCGT	0.587												
PTPN23	25930	broad.mit.edu	37	3	47451306	47451306	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:47451306G>A	uc003crf.1	+	19	2207	c.2111G>A	c.(2110-2112)CGC>CAC	p.R704H	PTPN23_uc011baw.1_Missense_Mutation_p.R669H|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_Missense_Mutation_p.R574H	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	704					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGGCTGCCCGCCAGCAGCTC	0.667												
DHX30	22907	broad.mit.edu	37	3	47888052	47888052	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:47888052T>C	uc003cru.2	+	11	1916	c.1490T>C	c.(1489-1491)GTG>GCG	p.V497A	DHX30_uc003crt.2_Missense_Mutation_p.V458A|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	497	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATCTCTGCTGTGTCTGTGGCA	0.652												
MAP4	4134	broad.mit.edu	37	3	47913552	47913552	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:47913552T>C	uc003csb.2	-	11	2887	c.2361A>G	c.(2359-2361)TCA>TCG	p.S787S	MAP4_uc003csc.3_Silent_p.S787S|MAP4_uc003crw.2_5'Flank|MAP4_uc003crx.2_Silent_p.S47S|MAP4_uc011bbe.1_Silent_p.S538S|MAP4_uc003cry.2_Silent_p.S522S|MAP4_uc003csa.3_Silent_p.S522S|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_Silent_p.S522S	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	787				S->E: No change in microtubule binding; reduced microtubule polymerization activity.	negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GCTTGGATGGTGAGGCCCGCT	0.562												
PLXNB1	5364	broad.mit.edu	37	3	48455211	48455211	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:48455211A>G	uc003csw.2	-	23	4673	c.4403T>C	c.(4402-4404)TTG>TCG	p.L1468S	PLXNB1_uc003cst.2_5'UTR|PLXNB1_uc003csu.2_Missense_Mutation_p.L1285S|PLXNB1_uc003csx.2_Missense_Mutation_p.L1468S|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1468	Extracellular (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGAGAAGCGCAAGTTCCCCAT	0.642												
PLXNB1	5364	broad.mit.edu	37	3	48461117	48461117	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:48461117C>T	uc003csw.2	-	11	2848	c.2578G>A	c.(2578-2580)GCA>ACA	p.A860T	PLXNB1_uc003csu.2_Intron|PLXNB1_uc003csx.2_Missense_Mutation_p.A860T|PLXNB1_uc010hjx.1_Intron	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	860	Extracellular (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AAGGCGGGTGCGTCACCCCCC	0.682												
PLXNB1	5364	broad.mit.edu	37	3	48461322	48461322	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:48461322C>T	uc003csw.2	-	11	2643	c.2373G>A	c.(2371-2373)CCG>CCA	p.P791P	PLXNB1_uc003csu.2_Intron|PLXNB1_uc003csx.2_Silent_p.P791P|PLXNB1_uc010hjx.1_Intron	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	791	Extracellular (Potential).|Pro-rich.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACGGTGACAGCGGGGAGGCCA	0.667												
SHISA5	51246	broad.mit.edu	37	3	48510575	48510575	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:48510575G>A	uc003ctp.1	-	6	788	c.654C>T	c.(652-654)GCC>GCT	p.A218A	SHISA5_uc003ctn.1_Missense_Mutation_p.R87C|SHISA5_uc003ctm.1_Silent_p.A115A|SHISA5_uc011bbk.1_Missense_Mutation_p.R127C|SHISA5_uc003cto.1_Silent_p.A187A|SHISA5_uc003ctq.1_Silent_p.A211A|SHISA5_uc003ctr.1_Silent_p.A187A|SHISA5_uc003cts.1_Silent_p.A187A|SHISA5_uc003ctt.2_3'UTR|SHISA5_uc003ctu.1_RNA|SHISA5_uc011bbl.1_Silent_p.A116A	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN	scotin precursor	218	Cytoplasmic (Potential).|Pro-rich.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding				0						GGTAGGGCGCGGCTGCTCCTC	0.652												
SHISA5	51246	broad.mit.edu	37	3	48520624	48520624	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:48520624C>T	uc003ctp.1	-	3	410	c.276G>A	c.(274-276)GCG>GCA	p.A92A	SHISA5_uc003cto.1_Silent_p.A61A|SHISA5_uc003ctq.1_Silent_p.A85A|SHISA5_uc003ctr.1_Silent_p.A61A|SHISA5_uc003cts.1_Silent_p.A61A|SHISA5_uc011bbl.1_5'UTR	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN	scotin precursor	92	Extracellular (Potential).				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding				0						GAAACCTCAGCGCCGAGCCCA	0.597												
PFKFB4	5210	broad.mit.edu	37	3	48573768	48573768	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:48573768A>G	uc003ctv.2	-	8	778	c.761T>C	c.(760-762)CTC>CCC	p.L254P	PFKFB4_uc003ctw.2_Missense_Mutation_p.L63P|PFKFB4_uc010hkc.2_Missense_Mutation_p.L254P|PFKFB4_uc003ctx.2_Missense_Mutation_p.L211P|PFKFB4_uc010hkb.2_Missense_Mutation_p.L254P|PFKFB4_uc011bbm.1_Missense_Mutation_p.L243P|PFKFB4_uc011bbn.1_RNA	NM_004567	NP_004558	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,	254	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTGCCGGCAGAGGTAGATGGA	0.637												
CELSR3	1951	broad.mit.edu	37	3	48685381	48685381	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:48685381C>T	uc003cul.2	-	20	7303	c.7022G>A	c.(7021-7023)CGT>CAT	p.R2341H	CELSR3_uc003cuf.1_Missense_Mutation_p.R2411H|CELSR3_uc010hkg.2_Missense_Mutation_p.R324H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2341	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGGTAGCGACGGGCCCCCCG	0.632												
CELSR3	1951	broad.mit.edu	37	3	48685826	48685826	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:48685826C>T	uc003cul.2	-	19	7127	c.6846G>A	c.(6844-6846)CAG>CAA	p.Q2282Q	CELSR3_uc003cuf.1_Silent_p.Q2352Q|CELSR3_uc010hkg.2_Silent_p.Q265Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2282	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGGGGCCCGCTGCCCCAGCG	0.627												
CELSR3	1951	broad.mit.edu	37	3	48690532	48690532	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:48690532C>T	uc003cul.2	-	10	5818	c.5537G>A	c.(5536-5538)GGC>GAC	p.G1846D	CELSR3_uc003cuf.1_Missense_Mutation_p.G1916D|CELSR3_uc010hkg.2_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1846	Extracellular (Potential).|Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGCCACCGGCCATCACTGAC	0.617												
ARIH2	10425	broad.mit.edu	37	3	49011181	49011181	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49011181C>T	uc003cvb.2	+	9	1132	c.820C>T	c.(820-822)CGG>TGG	p.R274W	ARIH2_uc003cvc.2_Missense_Mutation_p.R274W|ARIH2_uc003cvf.2_Missense_Mutation_p.R192W|ARIH2_uc010hkl.2_Missense_Mutation_p.R274W	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	274					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TGCCACAATCCGGAAATGGCT	0.423												
USP19	10869	broad.mit.edu	37	3	49148936	49148936	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49148936C>T	uc003cwd.1	-	20	3066	c.2905G>A	c.(2905-2907)GAA>AAA	p.E969K	USP19_uc003cwa.2_Missense_Mutation_p.E777K|USP19_uc003cvz.3_Missense_Mutation_p.E1072K|USP19_uc011bcg.1_Missense_Mutation_p.E1060K|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.E727K|USP19_uc011bch.1_Missense_Mutation_p.E1070K	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	969	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCTTACCTTCGGGTCGGGAC	0.607												
LAMB2	3913	broad.mit.edu	37	3	49162247	49162247	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49162247G>A	uc003cwe.2	-	21	3295	c.2996C>T	c.(2995-2997)GCC>GTC	p.A999V	LAMB2_uc003cwf.1_Missense_Mutation_p.A999V	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	999	Laminin EGF-like 10.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGGTCACAGGCATCAGGATC	0.617												
USP4	7375	broad.mit.edu	37	3	49339872	49339872	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49339872C>T	uc003cwq.2	-	10	1311	c.1232G>A	c.(1231-1233)CGG>CAG	p.R411Q	USP4_uc003cwo.2_Missense_Mutation_p.R141Q|USP4_uc003cwp.2_Missense_Mutation_p.R141Q|USP4_uc003cwr.2_Missense_Mutation_p.R364Q	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	411					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTTCTTTACCCGGTTCAGATC	0.463												
USP4	7375	broad.mit.edu	37	3	49373016	49373016	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49373016T>C	uc003cwq.2	-	2	194	c.115A>G	c.(115-117)AGC>GGC	p.S39G	USP4_uc003cwr.2_Missense_Mutation_p.S39G	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	39	DUSP.				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AACCACCGGCTGTCAATAAGA	0.418												
BSN	8927	broad.mit.edu	37	3	49699106	49699106	+	Silent	SNP	C	C	T	rs141529689		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49699106C>T	uc003cxe.3	+	6	9942	c.9828C>T	c.(9826-9828)GAC>GAT	p.D3276D		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	3276					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GTGTCCTTGACGGGCCCACAC	0.637												
MST1	4485	broad.mit.edu	37	3	49722070	49722070	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49722070G>A	uc003cxg.2	-	16	1861	c.1789C>T	c.(1789-1791)CGT>TGT	p.R597C		NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	583	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGGGCCACACGCTGGTTCAGG	0.587												
MST1	4485	broad.mit.edu	37	3	49722283	49722283	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49722283C>T	uc003cxg.2	-	15	1729	c.1657G>A	c.(1657-1659)GGC>AGC	p.G553S		NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	539	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AACAGGGTGCCCAACCATACC	0.572												
MST1	4485	broad.mit.edu	37	3	49725025	49725025	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49725025G>A	uc003cxg.2	-	3	391	c.319C>T	c.(319-321)CGG>TGG	p.R107W	MST1_uc011bcs.1_Missense_Mutation_p.R107W|MST1_uc010hkx.2_Silent_p.C17C|MST1_uc011bct.1_Missense_Mutation_p.R107W|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	93	PAN.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCAGAACGCCGCAGCCTCGTG	0.602												
IP6K1	9807	broad.mit.edu	37	3	49764800	49764800	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49764800G>T	uc003cxm.1	-	6	1396	c.1081C>A	c.(1081-1083)CTG>ATG	p.L361M	IP6K1_uc003cxn.1_Missense_Mutation_p.L196M|IP6K1_uc011bcv.1_Missense_Mutation_p.L196M|IP6K1_uc003cxo.2_3'UTR	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	361					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						ACCATGTCCAGGTGCTTGAGA	0.632												
CAMKV	79012	broad.mit.edu	37	3	49898998	49898998	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:49898998C>T	uc003cxt.1	-	5	508	c.315G>A	c.(313-315)AGG>AGA	p.R105R	CAMKV_uc011bcy.1_Silent_p.R30R|CAMKV_uc003cxv.1_Silent_p.R105R|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Silent_p.R105R|CAMKV_uc011bcz.1_Silent_p.R68R|CAMKV_uc011bda.1_Intron|CAMKV_uc011bdb.1_Intron	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	105	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CAAACACCTCCCTCCCCGTGG	0.637												
NPRL2	10641	broad.mit.edu	37	3	50385556	50385556	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:50385556G>A	uc003daj.1	-	9	1334	c.931C>T	c.(931-933)CGG>TGG	p.R311W	ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc003dah.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|NPRL2_uc003dai.1_Missense_Mutation_p.R191W|CYB561D2_uc003dak.2_5'Flank|CYB561D2_uc003dal.2_5'Flank|CYB561D2_uc003dam.2_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	tumor suppressor candidate 4	311					negative regulation of kinase activity		protein binding|protein kinase activity			lung(1)	1						TCCTCTGACCGTTCATCAACA	0.572												
DOCK3	1795	broad.mit.edu	37	3	51392444	51392444	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:51392444C>T	uc011bds.1	+	41	4262	c.4239C>T	c.(4237-4239)TGC>TGT	p.C1413C		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1413	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCTACAGTGCGATGCCCAGT	0.602												
PARP3	10039	broad.mit.edu	37	3	51978417	51978417	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:51978417C>T	uc003dby.2	+	4	695	c.324C>T	c.(322-324)GGC>GGT	p.G108G	RRP9_uc003dbw.1_5'Flank|PARP3_uc003dbz.2_Silent_p.G115G	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	108					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGAGGTCGGCCAGTCAAAGA	0.557												
ALAS1	211	broad.mit.edu	37	3	52242221	52242221	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:52242221G>A	uc003dcy.1	+	9	1625	c.1288G>A	c.(1288-1290)GAT>AAT	p.D430N	ALAS1_uc003dcz.1_Missense_Mutation_p.D430N|ALAS1_uc011bec.1_Missense_Mutation_p.D447N	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor	430					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGGGGATCGGGATGGAGTCAT	0.483												
DNAH1	25981	broad.mit.edu	37	3	52387194	52387194	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:52387194C>T	uc011bef.1	+	19	3364	c.3103C>T	c.(3103-3105)CGC>TGC	p.R1035C	DNAH1_uc003ddt.1_Missense_Mutation_p.R1035C	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1035	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGACTGGCTGCGCTGGTCGGA	0.577												
DNAH1	25981	broad.mit.edu	37	3	52428993	52428993	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:52428993G>A	uc011bef.1	+	68	11147	c.10886G>A	c.(10885-10887)CGC>CAC	p.R3629H	DNAH1_uc003ddv.2_Missense_Mutation_p.R487H	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3694					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTAGTCCTCCGCTGCCTGCGT	0.607												
ITIH1	3697	broad.mit.edu	37	3	52821010	52821010	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:52821010C>T	uc003dfs.2	+	14	1807	c.1783C>T	c.(1783-1785)CAG>TAG	p.Q595*	ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Nonsense_Mutation_p.Q196*|ITIH1_uc010hmo.1_Nonsense_Mutation_p.Q149*|ITIH1_uc003dfu.2_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	595	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CCAGGCCCTGCAGATGTCGCT	0.612												
SFMBT1	51460	broad.mit.edu	37	3	52941168	52941168	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:52941168G>T	uc003dgf.2	-	20	2817	c.2248C>A	c.(2248-2250)CTG>ATG	p.L750M	SFMBT1_uc010hmr.2_Missense_Mutation_p.L697M|SFMBT1_uc003dgg.2_Missense_Mutation_p.L750M|SFMBT1_uc003dgh.2_Missense_Mutation_p.L750M	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	750					regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TCTGGAGGCAGCGATGTGGAT	0.423												
SFMBT1	51460	broad.mit.edu	37	3	52950206	52950206	+	Silent	SNP	G	G	A	rs151052292	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:52950206G>A	uc003dgf.2	-	15	2009	c.1440C>T	c.(1438-1440)CAC>CAT	p.H480H	SFMBT1_uc010hmr.2_Silent_p.H427H|SFMBT1_uc003dgg.2_Silent_p.H480H|SFMBT1_uc003dgh.2_Silent_p.H480H	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	480					regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TCAGGCCCTCGTGGACAGTCC	0.403												
TKT	7086	broad.mit.edu	37	3	53275202	53275202	+	Silent	SNP	C	C	T	rs140341715	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:53275202C>T	uc003dgo.2	-	3	395	c.285G>A	c.(283-285)GCG>GCA	p.A95A	TKT_uc011beo.1_Silent_p.A48A|TKT_uc003dgq.2_Silent_p.A95A|TKT_uc011beq.1_Silent_p.A95A|TKT_uc011ber.1_5'UTR|TKT_uc011bep.1_Intron	NM_001135055	NP_001128527	P29401	TKT_HUMAN	transketolase isoform 1	95					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			ovary(2)	2		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	TCAGCAGCTCCGCCTCGGCCA	0.652												
CACNA1D	776	broad.mit.edu	37	3	53766961	53766961	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:53766961G>A	uc003dgv.3	+	19	2756	c.2593G>A	c.(2593-2595)GCT>ACT	p.A865T	CACNA1D_uc003dgu.3_Missense_Mutation_p.A885T|CACNA1D_uc003dgy.3_Missense_Mutation_p.A865T|CACNA1D_uc003dgw.3_Missense_Mutation_p.A532T|CACNA1D_uc003dgx.1_Missense_Mutation_p.A13T	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	865	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGAAGGGAGCGCTTTCTTCAT	0.507												
CACNA1D	776	broad.mit.edu	37	3	53845159	53845159	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:53845159T>C	uc003dgv.3	+	48	6375	c.6212T>C	c.(6211-6213)TTG>TCG	p.L2071S	CACNA1D_uc003dgu.3_Missense_Mutation_p.L2091S|CACNA1D_uc003dgy.3_Missense_Mutation_p.L2047S|CACNA1D_uc003dgw.3_Missense_Mutation_p.L1738S|CACNA1D_uc011bes.1_RNA	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	2071	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCCGAAGGCTTGGGACGCTAT	0.517												
LRTM1	57408	broad.mit.edu	37	3	54952604	54952604	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:54952604G>A	uc003dhl.2	-	3	1054	c.920C>T	c.(919-921)GCC>GTC	p.A307V	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	307	Helical; (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GCCATAGATGGCAGCTGCCAA	0.537												
WNT5A	7474	broad.mit.edu	37	3	55504262	55504262	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:55504262C>T	uc003dhn.2	-	5	1319	c.1001G>A	c.(1000-1002)GGC>GAC	p.G334D	WNT5A_uc003dhm.2_Missense_Mutation_p.G319D|WNT5A_uc010hmw.2_Missense_Mutation_p.G319D|WNT5A_uc010hmx.2_Missense_Mutation_p.G245D	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	334					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GAGCTCGCAGCCATCCATGCC	0.637												
ERC2	26059	broad.mit.edu	37	3	55922525	55922525	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:55922525G>A	uc003dhr.1	-	14	2712	c.2456C>T	c.(2455-2457)ACC>ATC	p.T819I	ERC2_uc003dhq.1_RNA|ERC2_uc003dht.1_Missense_Mutation_p.T298I	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	819	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCGTGCTTTGGTGGCATCCAG	0.522												
ARHGEF3	50650	broad.mit.edu	37	3	56766423	56766423	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:56766423C>T	uc003dig.2	-	9	1240	c.1071G>A	c.(1069-1071)GTG>GTA	p.V357V	ARHGEF3_uc011bew.1_Silent_p.V357V|ARHGEF3_uc003dih.2_Silent_p.V389V|ARHGEF3_uc011bev.1_Silent_p.V328V|ARHGEF3_uc003dif.2_Silent_p.V363V|ARHGEF3_uc010hmy.1_Silent_p.V155V|ARHGEF3_uc003dii.2_Silent_p.V357V	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor 3 isoform	357	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TGATCACAAGCACTTCTTGGA	0.468												
FLNB	2317	broad.mit.edu	37	3	58080594	58080594	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:58080594G>A	uc003djj.2	+	5	984	c.819G>A	c.(817-819)CAG>CAA	p.Q273Q	FLNB_uc010hne.2_Silent_p.Q273Q|FLNB_uc003djk.2_Silent_p.Q273Q|FLNB_uc010hnf.2_Silent_p.Q273Q|FLNB_uc003djl.2_Silent_p.Q104Q|FLNB_uc003djm.2_Silent_p.Q104Q	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	273	Filamin 1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGTGAAGCAGCCAGCCAAGT	0.547												
PTPRG	5793	broad.mit.edu	37	3	62189140	62189140	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:62189140G>T	uc003dlb.2	+	12	2390	c.1671G>T	c.(1669-1671)GAG>GAT	p.E557D	PTPRG_uc003dlc.2_Missense_Mutation_p.E557D	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	557	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCACCACAGAGGCCTTGGCTT	0.537												
FEZF2	55079	broad.mit.edu	37	3	62358365	62358365	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:62358365C>T	uc003dlh.2	-	1	386	c.179G>A	c.(178-180)GGC>GAC	p.G60D	FEZF2_uc003dli.2_Missense_Mutation_p.G60D	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	60					transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CAGTTTCTTGCCCTGGCTGCC	0.637												
CADPS	8618	broad.mit.edu	37	3	62535763	62535763	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:62535763T>C	uc003dll.2	-	11	2141	c.1781A>G	c.(1780-1782)AAT>AGT	p.N594S	CADPS_uc003dlk.1_Missense_Mutation_p.N98S|CADPS_uc003dlm.2_Missense_Mutation_p.N594S|CADPS_uc003dln.2_Missense_Mutation_p.N594S	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	594	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTTGACAGCATTGAAGAAGGC	0.522												
THOC7	80145	broad.mit.edu	37	3	63820861	63820861	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:63820861A>T	uc003dlt.3	-	7	647	c.516T>A	c.(514-516)AGT>AGA	p.S172R	C3orf49_uc003dls.3_Intron|THOC7_uc003dlu.3_Missense_Mutation_p.S109R	NM_025075	NP_079351	Q6I9Y2	THOC7_HUMAN	Ngg1 interacting factor 3 like 1 binding protein	172	Potential.|Interaction with NIF3L1.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		CATGGATGGTACTAAGAAGAA	0.294												
SLC25A26	115286	broad.mit.edu	37	3	66428187	66428187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:66428187C>T	uc011bfq.1	+	11	1509	c.781C>T	c.(781-783)CGA>TGA	p.R261*	SLC25A26_uc011bfs.1_Nonsense_Mutation_p.R173*|SLC25A26_uc011bft.1_RNA|SLC25A26_uc011bfr.1_Nonsense_Mutation_p.R261*|SLC25A26_uc003dmt.2_3'UTR	NM_173471	NP_775742	Q70HW3	SAMC_HUMAN	solute carrier family 25, member 26 isoform a	261	Solcar 3.					integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity			pancreas(1)	1		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		GGCTTATGACCGAACGCACAG	0.498												
CHMP2B	25978	broad.mit.edu	37	3	87295032	87295032	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:87295032G>A	uc003dqp.3	+	3	555	c.295G>A	c.(295-297)GCT>ACT	p.A99T	CHMP2B_uc011bgn.1_Missense_Mutation_p.A58T	NM_014043	NP_054762	Q9UQN3	CHM2B_HUMAN	chromatin modifying protein 2B	99					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			skin(2)|ovary(1)	3	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AATGAAGATGGCTGGAGCAAT	0.318												
EPHA3	2042	broad.mit.edu	37	3	89468423	89468423	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:89468423A>G	uc003dqy.2	+	11	2182	c.1957A>G	c.(1957-1959)AAG>GAG	p.K653E	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	653	Cytoplasmic (Potential).|Protein kinase.	ATP (By similarity).				extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGTGGCCATTAAGACCCTGAA	0.428										TSP Lung(6;0.00050)		
EPHA3	2042	broad.mit.edu	37	3	89521697	89521697	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:89521697C>T	uc003dqy.2	+	16	2999	c.2774C>T	c.(2773-2775)ACA>ATA	p.T925I	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	925	Cytoplasmic (Potential).|SAM.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GGTGTCTGGACAGCACACTGC	0.418										TSP Lung(6;0.00050)		
DCBLD2	131566	broad.mit.edu	37	3	98568318	98568318	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:98568318A>G	uc003dtd.2	-	3	921	c.558T>C	c.(556-558)GTT>GTC	p.V186V	DCBLD2_uc003dte.2_Silent_p.V186V|DCBLD2_uc003dtf.1_RNA	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	186	Extracellular (Potential).|CUB.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3						GTTTATCTATAACAGAGTATG	0.328												
C3orf26	84319	broad.mit.edu	37	3	99881236	99881236	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:99881236C>T	uc003dtl.2	+	4	458	c.315C>T	c.(313-315)AGC>AGT	p.S105S		NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	hypothetical protein LOC84319	105							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(1)	1						ATTATAGCAGCAGACGCTTGG	0.383												
GPR128	84873	broad.mit.edu	37	3	100354601	100354601	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:100354601T>C	uc003duc.2	+	5	796	c.528T>C	c.(526-528)GCT>GCC	p.A176A	GPR128_uc011bhc.1_5'UTR	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	176	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4						AATTAACTGCTGAGAACATCA	0.358												
ABI3BP	25890	broad.mit.edu	37	3	100471644	100471644	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:100471644G>A	uc003dun.2	-	33	3061	c.2976C>T	c.(2974-2976)AGC>AGT	p.S992S	ABI3BP_uc003duj.2_Silent_p.S572S|ABI3BP_uc003duk.2_Silent_p.S701S|ABI3BP_uc003dul.2_Silent_p.S822S|ABI3BP_uc011bhd.1_Silent_p.S946S|ABI3BP_uc003dum.2_Silent_p.S403S	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	992						extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						TGAGGGAGTCGCTCAAGTAAA	0.413												
SENP7	57337	broad.mit.edu	37	3	101085430	101085430	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:101085430C>T	uc003dut.2	-	9	1273	c.1162G>A	c.(1162-1164)GGT>AGT	p.G388S	SENP7_uc003duu.2_Missense_Mutation_p.G323S|SENP7_uc003duv.2_Missense_Mutation_p.G355S|SENP7_uc003duw.2_Missense_Mutation_p.G322S|SENP7_uc003dux.2_Missense_Mutation_p.G224S	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	388					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						GTGGTTGAACCGGCAGAGGCA	0.383												
CEP97	79598	broad.mit.edu	37	3	101474321	101474321	+	Missense_Mutation	SNP	G	G	A	rs144348649		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:101474321G>A	uc003dvk.1	+	7	803	c.776G>A	c.(775-777)CGG>CAG	p.R259Q	CEP97_uc010hpm.1_Missense_Mutation_p.R225Q|CEP97_uc011bhf.1_Missense_Mutation_p.R259Q|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.R97Q	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	259						centrosome|nucleus	protein binding			ovary(2)	2						AGAGCATATCGGCCTGGCCAG	0.478												
ALCAM	214	broad.mit.edu	37	3	105266081	105266081	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:105266081A>G	uc003dvx.2	+	10	1733	c.1193A>G	c.(1192-1194)GAG>GGG	p.E398G	ALCAM_uc003dvw.1_Missense_Mutation_p.E398G|ALCAM_uc003dvy.2_Missense_Mutation_p.E398G|ALCAM_uc010hpp.2_Missense_Mutation_p.E120G|ALCAM_uc003dvz.2_Missense_Mutation_p.E32G	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	398	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3						GCTCTGCAGGAGGTTGAAGGA	0.368												
DZIP3	9666	broad.mit.edu	37	3	108363512	108363512	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:108363512A>G	uc003dxd.2	+	14	2065	c.1643A>G	c.(1642-1644)GAC>GGC	p.D548G	DZIP3_uc003dxf.1_Missense_Mutation_p.D548G|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.D548G|DZIP3_uc003dxg.1_Missense_Mutation_p.D271G	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	548					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GAGGATATTGACAAAGTGAAG	0.393												
DPPA2	151871	broad.mit.edu	37	3	109028028	109028028	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:109028028T>C	uc003dxo.2	-	4	578	c.331A>G	c.(331-333)ACT>GCT	p.T111A		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	111	SAP.					nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3						TTGCCATTAGTACTCAAACCG	0.433												
PVRL3	25945	broad.mit.edu	37	3	110830886	110830886	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:110830886C>T	uc003dxt.1	+	2	170	c.170C>T	c.(169-171)GCT>GTT	p.A57V	PVRL3_uc003dxu.1_Missense_Mutation_p.A34V	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3 precursor	57					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			upper_aerodigestive_tract(2)	2						GGTGCCTTAGCTGGACCAATT	0.373												
CCDC80	151887	broad.mit.edu	37	3	112337840	112337840	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:112337840A>G	uc003dzf.2	-	4	2365	c.2147T>C	c.(2146-2148)CTA>CCA	p.L716P	CCDC80_uc011bhv.1_Missense_Mutation_p.L716P|CCDC80_uc003dzg.2_Missense_Mutation_p.L716P|CCDC80_uc003dzh.1_Missense_Mutation_p.L716P	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	716										ovary(2)	2						CACATCTGTTAGCACCATGAA	0.413												
BOC	91653	broad.mit.edu	37	3	113003402	113003402	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:113003402C>T	uc003dzx.2	+	17	3495	c.2874C>T	c.(2872-2874)GGC>GGT	p.G958G	BOC_uc003dzy.2_Silent_p.G958G|BOC_uc003dzz.2_Silent_p.G959G|BOC_uc003eab.2_Silent_p.G659G|BOC_uc003eac.2_Silent_p.G273G	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	958	Cytoplasmic (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			ACTGCCCAGGCGAGCTTCAGC	0.662												
SIDT1	54847	broad.mit.edu	37	3	113327011	113327011	+	Missense_Mutation	SNP	C	C	T	rs141213900	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:113327011C>T	uc003eak.2	+	16	2200	c.1549C>T	c.(1549-1551)CGC>TGC	p.R517C	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.R517C|SIDT1_uc011big.1_Missense_Mutation_p.R270C|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	517	Cytoplasmic (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						GATAGTCTTGCGCCGCGACAT	0.532												
KIAA1407	57577	broad.mit.edu	37	3	113697048	113697048	+	Missense_Mutation	SNP	G	G	A	rs145062166	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:113697048G>A	uc003eax.2	-	16	2738	c.2591C>T	c.(2590-2592)GCG>GTG	p.A864V	KIAA1407_uc011bin.1_RNA	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	864										ovary(2)	2						ACTGTGCTCCGCTGCAATCTC	0.423												
TMEM39A	55254	broad.mit.edu	37	3	119165958	119165958	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:119165958A>G	uc003eck.1	-	5	845	c.482T>C	c.(481-483)GTA>GCA	p.V161A	TMEM39A_uc003ecl.1_Missense_Mutation_p.V9A	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	161	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)	2				GBM - Glioblastoma multiforme(114;0.244)		AGTGAGTAGTACCAAGCGAGC	0.438												
ADPRH	141	broad.mit.edu	37	3	119305247	119305247	+	Silent	SNP	C	C	T	rs146369894	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:119305247C>T	uc003ecs.2	+	4	712	c.414C>T	c.(412-414)ATC>ATT	p.I138I	ADPRH_uc010hqv.2_Silent_p.I138I|ADPRH_uc011bjb.1_Silent_p.I31I|ADPRH_uc003ect.2_Silent_p.I138I	NM_001125	NP_001116	P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	138					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			ovary(1)	1		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CCATGTGCATCGGTCTCAGGT	0.612												
PLA1A	51365	broad.mit.edu	37	3	119325724	119325724	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:119325724G>A	uc003ecu.2	+	2	216	c.177G>A	c.(175-177)TCG>TCA	p.S59S	PLA1A_uc003ecv.2_Silent_p.S59S|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Intron	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN	phospholipase A1 member A precursor	59					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						TTGTCCCTTCGAATCCTAGCT	0.502												
STXBP5L	9515	broad.mit.edu	37	3	121132132	121132132	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:121132132C>T	uc003eec.3	+	25	3288	c.3148C>T	c.(3148-3150)CGG>TGG	p.R1050W	STXBP5L_uc011bji.1_Missense_Mutation_p.R1026W	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1050	WD 14.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		TGAAATTCAGCGGTTAACATA	0.383												
IQCB1	9657	broad.mit.edu	37	3	121500637	121500637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:121500637G>A	uc010hre.1	-	13	1578	c.1363C>T	c.(1363-1365)CGA>TGA	p.R455*	IQCB1_uc003eek.2_Nonsense_Mutation_p.R322*|IQCB1_uc010hrf.1_RNA	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	IQ motif containing B1 isoform a	455					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding				0				GBM - Glioblastoma multiforme(114;0.0983)		AGTTCAACTCGGCGTGCATCA	0.403												
DIRC2	84925	broad.mit.edu	37	3	122545749	122545749	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:122545749C>A	uc003efw.3	+	3	679	c.540C>A	c.(538-540)GCC>GCA	p.A180A	DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Silent_p.A18A	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	180					transport	integral to membrane					0				GBM - Glioblastoma multiforme(114;0.0614)		ATGAAAGGGCCACAGCCACAG	0.463												
MYLK	4638	broad.mit.edu	37	3	123332966	123332966	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:123332966C>A	uc003ego.2	-	34	6013	c.5731G>T	c.(5731-5733)GAG>TAG	p.E1911*	uc003egk.2_Intron|MYLK_uc003egl.2_Nonsense_Mutation_p.E151*|MYLK_uc003egm.2_Nonsense_Mutation_p.E150*|MYLK_uc010hrr.2_Nonsense_Mutation_p.E346*|MYLK_uc011bjv.1_Nonsense_Mutation_p.E711*|MYLK_uc011bjw.1_Nonsense_Mutation_p.E1910*|MYLK_uc003egp.2_Nonsense_Mutation_p.E1842*|MYLK_uc003egq.2_Nonsense_Mutation_p.E1860*|MYLK_uc003egr.2_Nonsense_Mutation_p.E1791*|MYLK_uc003egs.2_Nonsense_Mutation_p.E1735*	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1911	Poly-Glu.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTTCTTCCTCTTCCCCTTCC	0.418												
MYLK	4638	broad.mit.edu	37	3	123401075	123401075	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:123401075A>G	uc003ego.2	-	20	3930	c.3648T>C	c.(3646-3648)ACT>ACC	p.T1216T	MYLK_uc011bjv.1_Silent_p.T16T|MYLK_uc011bjw.1_Silent_p.T1216T|MYLK_uc003egp.2_Silent_p.T1147T|MYLK_uc003egq.2_Silent_p.T1216T|MYLK_uc003egr.2_Silent_p.T1147T|MYLK_uc003egs.2_Silent_p.T1040T|MYLK_uc003egt.2_Silent_p.T407T	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1216	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACTCACTCTCAGTTCCTAGCA	0.602												
ITGB5	3693	broad.mit.edu	37	3	124515331	124515331	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:124515331A>T	uc003eho.2	-	10	1894	c.1597T>A	c.(1597-1599)TGC>AGC	p.C533S	ITGB5_uc010hrx.2_RNA	NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	533	Extracellular (Potential).|II.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		AAGCAGGAGCACTGGTTGCAG	0.597												
ZXDC	79364	broad.mit.edu	37	3	126160621	126160621	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:126160621A>G	uc003eiv.2	-	8	2435	c.2381T>C	c.(2380-2382)GTC>GCC	p.V794A	ZXDC_uc010hsh.2_RNA	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1	794	Interaction with CIITA.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)		CACCAGCTGGACCTGGACGCC	0.682												
COPG	22820	broad.mit.edu	37	3	128979574	128979574	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:128979574C>T	uc003els.2	+	12	1152	c.1052C>T	c.(1051-1053)ACG>ATG	p.T351M	COPG_uc010htb.2_Missense_Mutation_p.T257M	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	351	HEAT 3.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	p.T351M(1)		ovary(3)|breast(1)	4						CTCCTTAAGACGGGCAGCGAG	0.547												
RHO	6010	broad.mit.edu	37	3	129247930	129247930	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:129247930C>A	uc003emt.2	+	1	449	c.354C>A	c.(352-354)ACC>ACA	p.T118T		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	118	Retinal chromophore binding (By similarity).|Helical; Name=3; (Potential).				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding				0		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TCTTTGCCACCCTGGGCGGTA	0.632												
TMCC1	23023	broad.mit.edu	37	3	129370588	129370588	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:129370588C>T	uc003emz.3	-	7	2199	c.1698G>A	c.(1696-1698)CAG>CAA	p.Q566Q	TMCC1_uc003emy.3_Silent_p.Q242Q|TMCC1_uc011blc.1_Silent_p.Q387Q|TMCC1_uc010htg.2_Silent_p.Q452Q	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	566	Potential.					integral to membrane				skin(1)	1						GCTGCTGCTGCTGCTGCAGCT	0.582												
COL6A6	131873	broad.mit.edu	37	3	130284123	130284123	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:130284123G>T	uc010htl.2	+	3	978	c.947G>T	c.(946-948)AGG>ATG	p.R316M		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	316	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AAAAAGCTCAGGAAGGAAGTT	0.512												
COL6A6	131873	broad.mit.edu	37	3	130285766	130285766	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:130285766G>A	uc010htl.2	+	4	1534	c.1503G>A	c.(1501-1503)AAG>AAA	p.K501K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	501	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						ATTTGGGAAAGGCCATTGAGA	0.478												
COL6A6	131873	broad.mit.edu	37	3	130307993	130307993	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:130307993C>T	uc010htl.2	+	11	4216	c.4185C>T	c.(4183-4185)GGC>GGT	p.G1395G	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1395	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GAGGAGATGGCACAATGGGAG	0.433												
COL6A6	131873	broad.mit.edu	37	3	130340717	130340717	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:130340717A>G	uc010htl.2	+	23	4899	c.4868A>G	c.(4867-4869)CAA>CGA	p.Q1623R	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1623	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						TTGGGAAGCCAAGGAAATAAA	0.448												
ATP2C1	27032	broad.mit.edu	37	3	130649267	130649267	+	Missense_Mutation	SNP	G	G	A	rs141384562		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:130649267G>A	uc003enl.2	+	3	236	c.14G>A	c.(13-15)CGT>CAT	p.R5H	ATP2C1_uc011blg.1_Missense_Mutation_p.R39H|ATP2C1_uc011blh.1_Missense_Mutation_p.R39H|ATP2C1_uc011bli.1_Missense_Mutation_p.R39H|ATP2C1_uc003enk.2_5'UTR|ATP2C1_uc003enm.2_Missense_Mutation_p.R5H|ATP2C1_uc003enn.2_5'UTR|ATP2C1_uc003eno.2_Missense_Mutation_p.R5H|ATP2C1_uc003enp.2_Missense_Mutation_p.R5H|ATP2C1_uc003enq.2_Missense_Mutation_p.R5H|ATP2C1_uc003enr.2_Missense_Mutation_p.R5H|ATP2C1_uc003ens.2_Missense_Mutation_p.R5H|ATP2C1_uc003ent.2_Missense_Mutation_p.R5H	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	5	Cytoplasmic (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TAGGTTGCACGTTTTCAAAAA	0.318									Hailey-Hailey_disease			
NEK11	79858	broad.mit.edu	37	3	131068501	131068501	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:131068501T>C	uc003eny.2	+	18	2145	c.1819T>C	c.(1819-1821)TGT>CGT	p.C607R	uc003eoc.1_Intron|NEK11_uc003eoa.2_Silent_p.S574S|NEK11_uc003enz.2_Missense_Mutation_p.C425R|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Missense_Mutation_p.C423R|NEK11_uc011bll.1_Missense_Mutation_p.C502R	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11 isoform 1	607					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(4)|stomach(1)|central_nervous_system(1)	6						GATCCGCGAGTGTTTGGAAAA	0.478												
DNAJC13	23317	broad.mit.edu	37	3	132196986	132196986	+	Splice_Site	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:132196986T>C	uc003eor.2	+	24	2774	c.2709_splice	c.e24+2	p.R903_splice		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13								heat shock protein binding			ovary(1)|breast(1)	2						TTAGAGAGGGTAAGGATATCA	0.303												
ACAD11	84129	broad.mit.edu	37	3	132360908	132360908	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:132360908T>C	uc003eov.3	-	4	825	c.445A>G	c.(445-447)ACG>GCG	p.T149A	ACAD11_uc003eoy.2_Missense_Mutation_p.T149A	NM_032169	NP_115545	Q709F0	ACD11_HUMAN	putative acyl-CoA dehydrogenase	149						peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups			ovary(1)	1						GTTTCTACCGTGGCCACATAT	0.428												
TF	7018	broad.mit.edu	37	3	133494292	133494292	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:133494292C>T	uc003epu.1	+	20	3431	c.1703C>T	c.(1702-1704)CCA>CTA	p.P568L	TF_uc011blt.1_Missense_Mutation_p.P441L|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.P568L	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	568	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AACCCTGATCCATGGGCTAAG	0.522												
TF	7018	broad.mit.edu	37	3	133494370	133494370	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:133494370C>T	uc003epu.1	+	20	3509	c.1781C>T	c.(1780-1782)GCG>GTG	p.A594V	TF_uc011blt.1_Missense_Mutation_p.A467V|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.A594V	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	594	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GAGGAGTATGCGAACTGCCAC	0.498												
ANAPC13	25847	broad.mit.edu	37	3	134201677	134201677	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:134201677G>A	uc003eqi.2	-	2	167	c.70C>T	c.(70-72)CTG>TTG	p.L24L	CEP63_uc003eql.1_5'Flank|CEP63_uc003eqm.2_5'Flank|ANAPC13_uc003eqj.2_RNA|ANAPC13_uc003eqk.3_RNA	NM_015391	NP_056206	Q9BS18	APC13_HUMAN	anaphase promoting complex subunit 13	24					cell division|mitosis|protein K11-linked ubiquitination	anaphase-promoting complex				skin(1)	1						TCATAAGGCAGCTTGTCTTCT	0.443												
CEP63	80254	broad.mit.edu	37	3	134256004	134256004	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:134256004G>A	uc003eqo.1	+	7	898	c.449G>A	c.(448-450)CGT>CAT	p.R150H	CEP63_uc003eql.1_Missense_Mutation_p.R150H|CEP63_uc003eqm.2_Missense_Mutation_p.R150H|CEP63_uc003eqn.1_Missense_Mutation_p.R150H	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	150	Potential.				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1						CAGGAATTCCGTCAGAAATCG	0.453												
COPB2	9276	broad.mit.edu	37	3	139092574	139092574	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:139092574G>A	uc003etf.3	-	8	958	c.828C>T	c.(826-828)TGC>TGT	p.C276C	COPB2_uc011bmv.1_Silent_p.C247C|COPB2_uc010hui.2_Silent_p.C247C	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	276					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						GACTGGCCACGCACCATACCC	0.433												
ZBTB38	253461	broad.mit.edu	37	3	141163125	141163125	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:141163125C>A	uc003etw.2	+	8	2877	c.1895C>A	c.(1894-1896)CCA>CAA	p.P632Q	ZBTB38_uc010hun.2_Missense_Mutation_p.P629Q|ZBTB38_uc010huo.2_Missense_Mutation_p.P632Q|ZBTB38_uc003ety.2_Missense_Mutation_p.P632Q|ZBTB38_uc010hup.2_Missense_Mutation_p.P633Q	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	632					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CCAGCCATCCCATTGGAAACA	0.463												
GRK7	131890	broad.mit.edu	37	3	141497563	141497563	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:141497563C>T	uc011bnd.1	+	1	521	c.437C>T	c.(436-438)GCA>GTA	p.A146V		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	146	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						CGAGTGGCTGCAGTGACGCTG	0.607												
ATR	545	broad.mit.edu	37	3	142268341	142268341	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:142268341G>A	uc003eux.3	-	15	3273	c.3151C>T	c.(3151-3153)CGT>TGT	p.R1051C		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1051					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TGAAGGGCACGTTCTAATTCA	0.249								Other_conserved_DNA_damage_response_genes				
C3orf58	205428	broad.mit.edu	37	3	143691373	143691373	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:143691373T>C	uc003evo.2	+	1	734	c.199T>C	c.(199-201)TTC>CTC	p.F67L	C3orf58_uc011bnl.1_5'Flank	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	hypothetical protein LOC205428 isoform a	67						COPI vesicle coat|extracellular region				ovary(1)	1						GTGCCGCCGCTTCCTCAACGG	0.657												
PLSCR1	5359	broad.mit.edu	37	3	146251312	146251312	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:146251312C>T	uc003evx.3	-	3	427	c.39G>A	c.(37-39)CCG>CCA	p.P13P	PLSCR1_uc003evy.3_Silent_p.P6P|PLSCR1_uc011bnn.1_Missense_Mutation_p.R5Q|PLSCR1_uc003evz.3_RNA|PLSCR1_uc003ewa.2_Silent_p.P13P	NM_021105	NP_066928	O15162	PLS1_HUMAN	phospholipid scramblase 1	13	Cytoplasmic.				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			ovary(2)	2						AGTTTGTTTCCGGGTGAGAAG	0.343												
HPS3	84343	broad.mit.edu	37	3	148871324	148871324	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:148871324A>G	uc003ewu.1	+	7	1429	c.1289A>G	c.(1288-1290)CAG>CGG	p.Q430R	HPS3_uc003ewt.1_Missense_Mutation_p.Q430R|HPS3_uc011bnq.1_Missense_Mutation_p.Q265R	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	430						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTAAGAATACAGCTTTTCATA	0.393									Hermansky-Pudlak_syndrome			
TM4SF18	116441	broad.mit.edu	37	3	149051121	149051121	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:149051121G>A	uc003exa.2	-	2	186	c.49C>T	c.(49-51)CTT>TTT	p.L17F		NM_138786	NP_620141	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	17	Helical; (Potential).					integral to membrane				ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CAAAGTGCAAGCGGAATCAGC	0.438												
PFN2	5217	broad.mit.edu	37	3	149686272	149686272	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:149686272A>G	uc003ext.1	-	2	296	c.198T>C	c.(196-198)CTT>CTC	p.L66L	PFN2_uc003exs.1_Silent_p.L17L|PFN2_uc003exu.1_Silent_p.L66L|PFN2_uc011bnu.1_Silent_p.L66L	NM_053024	NP_444252	P35080	PROF2_HUMAN	profilin 2 isoform a	66					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding				0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCTTCGCGCCAAGAGTCAAAC	0.443												
FAM194A	131831	broad.mit.edu	37	3	150419909	150419909	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:150419909T>C	uc003eyg.2	-	2	517	c.460A>G	c.(460-462)AGA>GGA	p.R154G	FAM194A_uc003eyh.2_Missense_Mutation_p.R8G	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	154										skin(2)|ovary(1)	3						TTTTCTTACCTATCTATACTC	0.294												
MED12L	116931	broad.mit.edu	37	3	151100481	151100481	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:151100481A>G	uc003eyp.2	+	31	4561	c.4523A>G	c.(4522-4524)GAC>GGC	p.D1508G	MED12L_uc011bnz.1_Missense_Mutation_p.D1368G|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.D671G	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1508					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TACCAAGATGACATAAAAGCG	0.343												
AADAC	13	broad.mit.edu	37	3	151531954	151531954	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:151531954G>T	uc003eze.2	+	1	94	c.4G>T	c.(4-6)GGA>TGA	p.G2*		NM_001086	NP_001077	P22760	AAAD_HUMAN	arylacetamide deacetylase	2	Cytoplasmic (Potential).				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			skin(2)	2		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTTCACCATGGGAAGAAAATC	0.433												
DHX36	170506	broad.mit.edu	37	3	154033826	154033826	+	Splice_Site	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:154033826A>G	uc003ezy.3	-	2	449	c.368_splice	c.e2+1	p.G123_splice	DHX36_uc010hvq.2_Splice_Site_p.G123_splice|DHX36_uc003ezz.3_Splice_Site_p.G123_splice	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36							cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTCTTGTCGTACCCATGATCC	0.318												
PLCH1	23007	broad.mit.edu	37	3	155222384	155222384	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:155222384G>A	uc011bok.1	-	12	1905	c.1628C>T	c.(1627-1629)TCA>TTA	p.S543L	PLCH1_uc011boj.1_Missense_Mutation_p.S543L|PLCH1_uc011bol.1_Missense_Mutation_p.S525L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	543					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCGTCCATGTGATTTCTTTCC	0.294												
VEPH1	79674	broad.mit.edu	37	3	157081298	157081298	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:157081298C>A	uc003fbj.1	-	9	1907	c.1590G>T	c.(1588-1590)CAG>CAT	p.Q530H	VEPH1_uc003fbk.1_Missense_Mutation_p.Q530H|VEPH1_uc010hvu.1_Missense_Mutation_p.Q530H	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	530						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GAGTTTCTTCCTGGGAGTTTT	0.388												
SMC4	10051	broad.mit.edu	37	3	160141302	160141302	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:160141302A>G	uc003fdh.2	+	14	2222	c.2109A>G	c.(2107-2109)AAA>AAG	p.K703K	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Silent_p.K467K|SMC4_uc003fdi.2_Silent_p.K678K|SMC4_uc003fdj.2_Silent_p.K703K|SMC4_uc010hwd.2_Silent_p.K703K|SMC4_uc003fdl.2_Silent_p.K406K	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	703	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAGATGAGAAAATTCGCCAAG	0.348												
PPM1L	151742	broad.mit.edu	37	3	160679656	160679656	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:160679656C>T	uc003fdr.2	+	2	633	c.532C>T	c.(532-534)CGA>TGA	p.R178*	PPM1L_uc003fds.2_5'UTR|PPM1L_uc003fdt.2_Nonsense_Mutation_p.R51*|PPM1L_uc010hwf.2_RNA	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	protein phosphatase 1 (formerly 2C)-like	178	Cytoplasmic (Potential).|PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)	1			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GTCAATTGACCGAGAAATGCT	0.333												
PPM1L	151742	broad.mit.edu	37	3	160783285	160783285	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:160783285C>T	uc003fdr.2	+	3	770	c.669C>T	c.(667-669)AAC>AAT	p.N223N	PPM1L_uc003fds.2_Silent_p.N44N|PPM1L_uc003fdt.2_Silent_p.N96N|PPM1L_uc010hwf.2_RNA	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	protein phosphatase 1 (formerly 2C)-like	223	Cytoplasmic (Potential).|PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)	1			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AAGATGGGAACGCTATTCCTT	0.483												
SI	6476	broad.mit.edu	37	3	164714430	164714430	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:164714430C>T	uc003fei.2	-	40	4647	c.4585G>A	c.(4585-4587)GAC>AAC	p.D1529N		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1529	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCACAGATGTCTGCTCCAGTC	0.299										HNSCC(35;0.089)		
ZBBX	79740	broad.mit.edu	37	3	166958587	166958587	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:166958587A>G	uc003fep.2	-	21	2720	c.2397T>C	c.(2395-2397)AGT>AGC	p.S799S	ZBBX_uc011bpc.1_Silent_p.S838S|ZBBX_uc003feq.2_Silent_p.S770S	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	799						intracellular	zinc ion binding			ovary(2)	2						ATCTTTAAGTACTCTTTGACC	0.388												
GOLIM4	27333	broad.mit.edu	37	3	167750483	167750483	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:167750483T>C	uc003ffe.2	-	9	1345	c.1001A>G	c.(1000-1002)CAG>CGG	p.Q334R	GOLIM4_uc011bpe.1_Missense_Mutation_p.Q334R|GOLIM4_uc011bpf.1_Missense_Mutation_p.Q306R|GOLIM4_uc011bpg.1_Missense_Mutation_p.Q306R	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	334	Glu-rich.|Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5						CTCTTCCACCTGATGCTCCTC	0.537												
PHC3	80012	broad.mit.edu	37	3	169847182	169847182	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:169847182G>T	uc010hws.1	-	8	1106	c.1042C>A	c.(1042-1044)CCA>ACA	p.P348T	PHC3_uc003fgl.2_Missense_Mutation_p.P360T|PHC3_uc011bpq.1_Missense_Mutation_p.P307T|PHC3_uc011bpr.1_Missense_Mutation_p.P274T	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	polyhomeotic like 3	348	Pro-rich.|Gln-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TGCTGGGATGGGGGTGGGTCT	0.493												
RPL22L1	200916	broad.mit.edu	37	3	170586135	170586135	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:170586135C>T	uc003fhc.3	-	2	143	c.54G>A	c.(52-54)TTG>TTA	p.L18L	RPL22L1_uc003fhb.3_RNA	NM_001099645	NP_001093115	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	18					translation	ribosome	structural constituent of ribosome				0	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GAGTAAGGTCCAAATTAAACC	0.313												
SLC2A2	6514	broad.mit.edu	37	3	170723843	170723843	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:170723843G>A	uc003fhe.1	-	6	973	c.664C>T	c.(664-666)CTT>TTT	p.L222F	SLC2A2_uc003fhf.1_Missense_Mutation_p.L49F|SLC2A2_uc011bpu.1_Missense_Mutation_p.L95F	NM_000340	NP_000331	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose	222	Helical; Name=6; (Potential).				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GACAGGCCAAGCAGGATGTGC	0.413												
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
PEX5L	51555	broad.mit.edu	37	3	179537679	179537679	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:179537679T>G	uc003fki.1	-	9	1038	c.908A>C	c.(907-909)CAG>CCG	p.Q303P	PEX5L_uc011bqd.1_Missense_Mutation_p.Q260P|PEX5L_uc011bqe.1_Missense_Mutation_p.Q111P|PEX5L_uc011bqf.1_Missense_Mutation_p.Q195P|PEX5L_uc003fkj.1_Missense_Mutation_p.Q268P|PEX5L_uc010hxd.1_Missense_Mutation_p.Q301P|PEX5L_uc011bqg.1_Missense_Mutation_p.Q279P|PEX5L_uc011bqh.1_Missense_Mutation_p.Q244P	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	303					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TACTTGGTTCTGGGCTTCTTG	0.418												
HTR3E	285242	broad.mit.edu	37	3	183822631	183822631	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:183822631G>A	uc010hxq.2	+	5	912	c.446G>A	c.(445-447)CGC>CAC	p.R149H	HTR3E_uc003fml.3_Missense_Mutation_p.R134H|HTR3E_uc003fmm.2_Missense_Mutation_p.R164H|HTR3E_uc010hxr.2_Missense_Mutation_p.R175H|HTR3E_uc003fmn.2_Missense_Mutation_p.R149H	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	149	Extracellular (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AATGAAGGTCGCATCAGGTAT	0.488												
DVL3	1857	broad.mit.edu	37	3	183882166	183882166	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:183882166C>A	uc003fms.2	+	3	483	c.343C>A	c.(343-345)CCA>ACA	p.P115T	DVL3_uc011bqw.1_Missense_Mutation_p.P115T|DVL3_uc003fmt.2_5'UTR|DVL3_uc003fmu.2_5'Flank	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	115					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CTCCCGACCCCCATCCTTCCA	0.672												
AP2M1	1173	broad.mit.edu	37	3	183901269	183901269	+	Splice_Site	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:183901269G>T	uc011bqx.1	+	12	1331	c.1174_splice	c.e12-1	p.V392_splice	AP2M1_uc003fmw.2_Splice_Site_p.V390_splice|AP2M1_uc003fmx.2_Splice_Site_p.V320_splice|AP2M1_uc003fmy.2_Splice_Site_p.V390_splice|AP2M1_uc011bqy.1_Splice_Site_p.V262_splice|ABCF3_uc003fmz.2_5'Flank|ABCF3_uc003fna.2_5'Flank	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit						axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity				0	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCTTGCCCAGGTGCCATTCG	0.547												
ECE2	9718	broad.mit.edu	37	3	184009865	184009865	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:184009865C>T	uc003fni.3	+	19	2529	c.2491C>T	c.(2491-2493)CGC>TGC	p.R831C	ECE2_uc003fnl.3_Missense_Mutation_p.R759C|ECE2_uc003fnm.3_Missense_Mutation_p.R713C|ECE2_uc003fnk.3_Missense_Mutation_p.R684C	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	831	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGCTCGGTCCGCACACCAGA	0.657												
TPRG1	285386	broad.mit.edu	37	3	188925188	188925188	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:188925188G>T	uc003frv.1	+	7	1242	c.15G>T	c.(13-15)GGG>GGT	p.G5G	TPRG1_uc003frw.1_Silent_p.G5G	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	5											0	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CAACAATTGGGAGTTTTGAAG	0.453												
CLDN1	9076	broad.mit.edu	37	3	190039836	190039836	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:190039836A>G	uc003fsh.2	-	1	380	c.160T>C	c.(160-162)TGC>CGC	p.C54R		NM_021101	NP_066924	O95832	CLD1_HUMAN	claudin 1	54	Extracellular (Potential).				calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(1)	1	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		TGCGACACGCAGGACATCCAC	0.617												
CLDN16	10686	broad.mit.edu	37	3	190120187	190120187	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:190120187G>A	uc003fsi.2	+	2	454	c.386G>A	c.(385-387)CGC>CAC	p.R129H	CLDN16_uc010hze.2_Intron	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	129	Extracellular (Potential).				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GATGGGATTCGCACCTGTGAT	0.488												
MUC4	4585	broad.mit.edu	37	3	195484043	195484043	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:195484043C>T	uc011bto.1	-	19	15219	c.14759G>A	c.(14758-14760)AGC>AAC	p.S4920N	MUC4_uc003fuz.2_Missense_Mutation_p.S646N|MUC4_uc003fva.2_Missense_Mutation_p.S528N|MUC4_uc003fvb.2_Missense_Mutation_p.S564N|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.S564N|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.S528N|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.S612N|MUC4_uc011bti.1_Missense_Mutation_p.S612N|MUC4_uc011btj.1_Missense_Mutation_p.S789N|MUC4_uc011btk.1_Missense_Mutation_p.S528N|MUC4_uc011btl.1_Missense_Mutation_p.S557N|MUC4_uc011btm.1_Missense_Mutation_p.S737N|MUC4_uc011btn.1_Missense_Mutation_p.S528N|MUC4_uc003fvo.2_Missense_Mutation_p.S812N|MUC4_uc003fvp.2_Missense_Mutation_p.S761N	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1805					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCCCACCCTGCTGGTCTGATT	0.557												
MUC4	4585	broad.mit.edu	37	3	195515973	195515973	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:195515973C>A	uc011bto.1	-	2	2938	c.2478G>T	c.(2476-2478)GAG>GAT	p.E826D	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.E708D	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	831	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTTGTCGTCTCTCCTGAGG	0.567												
WDR53	348793	broad.mit.edu	37	3	196288312	196288312	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:196288312G>T	uc003fwt.2	-	3	506	c.35C>A	c.(34-36)CCT>CAT	p.P12H		NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	12	WD 1.									breast(1)|skin(1)	2	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GCAGAGGACAGGAGAAGAATG	0.517												
NCBP2	22916	broad.mit.edu	37	3	196664431	196664431	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:196664431C>T	uc003fxd.1	-	3	439	c.349G>A	c.(349-351)GCA>ACA	p.A117T	NCBP2_uc003fxb.1_Missense_Mutation_p.A47T|NCBP2_uc011btz.1_Missense_Mutation_p.A99T|NCBP2_uc003fxc.1_RNA|NCBP2_uc003fxe.1_Missense_Mutation_p.A64T|NCBP2_uc003fxf.2_3'UTR	NM_007362	NP_031388	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	117	RRM.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding				0	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		TTAAAGCCTGCGTCCCAGTCT	0.547												
PIGG	54872	broad.mit.edu	37	4	502669	502669	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:502669A>G	uc003gak.3	+	5	947	c.811A>G	c.(811-813)ATG>GTG	p.M271V	PIGG_uc003gaj.3_Missense_Mutation_p.M271V|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.M138V|PIGG_uc003gal.3_Missense_Mutation_p.M182V|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Missense_Mutation_p.M149V|PIGG_uc003gam.2_Missense_Mutation_p.M182V|PIGG_uc003gan.2_Missense_Mutation_p.M182V	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	271	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						TGACCATGGCATGTCTGAAAC	0.468												
PDE6B	5158	broad.mit.edu	37	4	647749	647749	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:647749T>C	uc003gap.2	+	4	873	c.820T>C	c.(820-822)TCC>CCC	p.S274P	PDE6B_uc003gao.3_Missense_Mutation_p.S274P|PDE6B_uc011buy.1_5'UTR|PDE6B_uc010ibg.2_5'UTR|uc003gaq.1_RNA	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	274	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						CGAGCGGTACTCCGTGGGCCT	0.652												
DGKQ	1609	broad.mit.edu	37	4	954956	954956	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:954956G>A	uc003gbw.2	-	22	2682	c.2608C>T	c.(2608-2610)CGG>TGG	p.R870W	DGKQ_uc010ibn.2_Missense_Mutation_p.R857W	NM_001347	NP_001338	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta	870					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGGGCAATCCGGATTCCGGAG	0.716												
WHSC1	7468	broad.mit.edu	37	4	1941496	1941496	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:1941496T>C	uc003gdz.3	+	9	2048	c.1872T>C	c.(1870-1872)ACT>ACC	p.T624T	WHSC1_uc003geb.3_Silent_p.T624T|WHSC1_uc003gec.3_Silent_p.T624T|WHSC1_uc003ged.3_Silent_p.T624T|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'UTR|WHSC1_uc003gdy.1_Silent_p.T624T|WHSC1_uc010icd.1_Silent_p.T624T|WHSC1_uc003gea.1_Silent_p.T624T|WHSC1_uc010ice.1_Silent_p.T624T|WHSC1_uc003geh.1_Silent_p.T624T	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	624					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CATCCTTAACTGAGAATGAGG	0.433			T	IGH@	MM							
WHSC1	7468	broad.mit.edu	37	4	1953854	1953854	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:1953854G>A	uc003gdz.3	+	11	2209	c.2033G>A	c.(2032-2034)AGC>AAC	p.S678N	WHSC1_uc003geb.3_Missense_Mutation_p.S678N|WHSC1_uc003gec.3_Missense_Mutation_p.S678N|WHSC1_uc003ged.3_Missense_Mutation_p.S678N|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'UTR|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_5'UTR	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	678	PHD-type 1.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AAGCCGGGCAGCCTCCTGCTC	0.652			T	IGH@	MM							
WHSC2	7469	broad.mit.edu	37	4	1985736	1985736	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:1985736G>T	uc003gem.2	-	9	1414	c.1174C>A	c.(1174-1176)CTG>ATG	p.L392M	WHSC2_uc003gek.2_Missense_Mutation_p.L118M|WHSC2_uc003gel.2_Missense_Mutation_p.L306M|WHSC2_uc003gen.2_Missense_Mutation_p.L246M	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Wolf-Hirschhorn syndrome candidate 2 protein	381					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			GCAGGGCTCAGGCCGCTGTTG	0.701												
TNIP2	79155	broad.mit.edu	37	4	2744179	2744179	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:2744179G>A	uc003gfg.2	-	6	1182	c.1095C>T	c.(1093-1095)GAC>GAT	p.D365D	TNIP2_uc003gff.2_Silent_p.D258D|TNIP2_uc003gfh.2_Silent_p.D282D	NM_024309	NP_077285	Q8NFZ5	TNIP2_HUMAN	A20-binding inhibitor of NF-kappaB activation 2	365						cytosol	protein binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCTCTAATGCGTCGGCGGCCA	0.627												
RGS12	6002	broad.mit.edu	37	4	3318583	3318583	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:3318583C>T	uc003ggw.2	+	2	1590	c.686C>T	c.(685-687)GCG>GTG	p.A229V	RGS12_uc003ggu.2_Missense_Mutation_p.A229V|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.A229V|RGS12_uc003ggx.1_Missense_Mutation_p.A229V	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	229	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTAAACGTGGCGATGATCGTG	0.483												
HGFAC	3083	broad.mit.edu	37	4	3445813	3445813	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:3445813T>C	uc003ghc.2	+	5	526	c.523T>C	c.(523-525)TGC>CGC	p.C175R	HGFAC_uc010icw.2_Missense_Mutation_p.C175R	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	175	EGF-like 1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGGAGGCTCCTGCTCCAATAC	0.697												
HGFAC	3083	broad.mit.edu	37	4	3449321	3449321	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:3449321C>A	uc003ghc.2	+	11	1461	c.1458C>A	c.(1456-1458)ACC>ACA	p.T486T	HGFAC_uc010icw.2_Silent_p.T493T	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	486	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCCGTACACCCTGTACTCGG	0.662												
DOK7	285489	broad.mit.edu	37	4	3494869	3494869	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:3494869T>C	uc003ghd.2	+	7	1226	c.1156T>C	c.(1156-1158)TGC>CGC	p.C386R	DOK7_uc003ghe.2_Missense_Mutation_p.C248R|DOK7_uc003ghf.2_Silent_p.C127C|DOK7_uc003ghg.1_Missense_Mutation_p.C76R	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	386					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCCAGCCTGTGCACCTGCCT	0.687												
DOK7	285489	broad.mit.edu	37	4	3494992	3494992	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:3494992G>A	uc003ghd.2	+	7	1349	c.1279G>A	c.(1279-1281)GGC>AGC	p.G427S	DOK7_uc003ghe.2_Missense_Mutation_p.G289S|DOK7_uc003ghf.2_Silent_p.P168P|DOK7_uc003ghg.1_Missense_Mutation_p.G117S	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	427					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGGCAGCCCCGGCAACAGTGC	0.711												
MSX1	4487	broad.mit.edu	37	4	4864432	4864432	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:4864432G>A	uc003gif.2	+	2	709	c.474G>A	c.(472-474)CGG>CGA	p.R158R		NM_002448	NP_002439	P28360	MSX1_HUMAN	msh homeobox 1	152					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTCAGGGCGGCTGAGCCCCC	0.527												
EVC	2121	broad.mit.edu	37	4	5721031	5721031	+	Silent	SNP	G	G	A	rs140615894	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:5721031G>A	uc003gil.1	+	2	415	c.231G>A	c.(229-231)TCG>TCA	p.S77S	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	77					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				AGACCCCCTCGGAAACTGGCT	0.483												
CRMP1	1400	broad.mit.edu	37	4	5868421	5868421	+	Silent	SNP	G	G	A	rs149094396	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:5868421G>A	uc003gip.2	-	3	203	c.102C>T	c.(100-102)GAC>GAT	p.D34D	CRMP1_uc003gin.1_Missense_Mutation_p.T8M|CRMP1_uc003giq.2_Silent_p.D34D|CRMP1_uc003gir.2_Silent_p.D29D|CRMP1_uc003gis.2_Silent_p.D148D	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	34					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		CCAGGTAGACGTCAGCATAAA	0.483												
MAN2B2	23324	broad.mit.edu	37	4	6612880	6612880	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:6612880A>G	uc003gjf.1	+	15	2474	c.2438A>G	c.(2437-2439)GAC>GGC	p.D813G	MAN2B2_uc003gje.1_Missense_Mutation_p.D813G|MAN2B2_uc011bwf.1_Missense_Mutation_p.D762G	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	813					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						ACGCTGAACGACACCTCAGTC	0.652												
SLC2A9	56606	broad.mit.edu	37	4	10022957	10022957	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:10022957G>A	uc003gmc.2	-	1	158	c.97C>T	c.(97-99)CTG>TTG	p.L33L	SLC2A9_uc003gmd.2_Intron	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	33	Cytoplasmic (Potential).				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3						CACTCCAGCAGTGCCCTCCCT	0.592												
HS3ST1	9957	broad.mit.edu	37	4	11401560	11401560	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:11401560C>T	uc003gmq.2	-	2	393	c.70G>A	c.(70-72)GAG>AAG	p.E24K		NM_005114	NP_005105	O14792	HS3S1_HUMAN	heparan sulfate D-glucosaminyl	24						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			skin(1)	1						TGGCCTAGCTCGGCGGGGCGG	0.711												
BOD1L	259282	broad.mit.edu	37	4	13579112	13579112	+	Splice_Site	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:13579112C>A	uc003gmz.1	-	24	8917	c.8800_splice	c.e24-1	p.D2934_splice		NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division								DNA binding			ovary(5)|breast(1)	6						CACCATCATCCTAGAAGCAAT	0.353												
PROM1	8842	broad.mit.edu	37	4	16020141	16020141	+	Silent	SNP	C	C	T	rs140327426	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:16020141C>T	uc003goo.2	-	8	1019	c.807G>A	c.(805-807)GCG>GCA	p.A269A	PROM1_uc003gor.2_Silent_p.A269A|PROM1_uc003gos.2_Silent_p.A260A|PROM1_uc003got.2_Silent_p.A269A|PROM1_uc003gou.2_Silent_p.A260A|PROM1_uc003gop.2_Silent_p.A260A|PROM1_uc003goq.3_Silent_p.A260A|PROM1_uc010iec.1_Silent_p.A147A	NM_006017	NP_006008	O43490	PROM1_HUMAN	prominin 1 isoform 1	269	Extracellular (Potential).				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7						TGTTCTCCAACGCCTCTTTGG	0.498												
STIM2	57620	broad.mit.edu	37	4	27024168	27024168	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:27024168T>C	uc003gsh.3	+	13	2292	c.2076T>C	c.(2074-2076)TGT>TGC	p.C692C	STIM2_uc003gsg.3_Silent_p.C684C|STIM2_uc010iex.2_3'UTR|STIM2_uc010iey.2_Missense_Mutation_p.V348A	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	597	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)				CTTCAGAATGTGACTCCTTAA	0.383												
ARAP2	116984	broad.mit.edu	37	4	36150128	36150128	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:36150128G>A	uc003gsq.1	-	17	3237	c.2899C>T	c.(2899-2901)CCC>TCC	p.P967S		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	967	PH 3.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ATAAAGATGGGCCTAAAACAT	0.323												
ARAP2	116984	broad.mit.edu	37	4	36179455	36179455	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:36179455G>A	uc003gsq.1	-	9	2189	c.1851C>T	c.(1849-1851)AAC>AAT	p.N617N	ARAP2_uc003gsr.1_Silent_p.N617N	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	617	PH 2.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TCACCTGTTCGTTTTTGCAAA	0.333												
ARAP2	116984	broad.mit.edu	37	4	36230285	36230285	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:36230285A>G	uc003gsq.1	-	2	1162	c.824T>C	c.(823-825)GTT>GCT	p.V275A	ARAP2_uc003gsr.1_Missense_Mutation_p.V275A	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	275					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TGGTCTTGAAACCAACTTGCT	0.408												
ARAP2	116984	broad.mit.edu	37	4	36230390	36230390	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:36230390G>A	uc003gsq.1	-	2	1057	c.719C>T	c.(718-720)TCA>TTA	p.S240L	ARAP2_uc003gsr.1_Missense_Mutation_p.S240L	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	240					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						GGATGGTGGTGATCCTTCTAA	0.398												
RELL1	768211	broad.mit.edu	37	4	37636542	37636542	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:37636542C>T	uc003gsz.2	-	5	737	c.647G>A	c.(646-648)CGC>CAC	p.R216H	RELL1_uc010ifc.2_Missense_Mutation_p.R216H	NM_001085399	NP_001078868	Q8IUW5	RELL1_HUMAN	receptor expressed in lymphoid tissues like 1	216	Cytoplasmic (Potential).					cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane					0						CTCGCCTTGGCGCCGTGGTCT	0.542												
TBC1D1	23216	broad.mit.edu	37	4	38055934	38055934	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:38055934G>A	uc003gtb.2	+	12	2368	c.2025G>A	c.(2023-2025)GCG>GCA	p.A675A	TBC1D1_uc011byd.1_Silent_p.A769A|TBC1D1_uc010ifd.2_Silent_p.A462A|TBC1D1_uc011byf.1_Silent_p.A546A	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	675						nucleus	Rab GTPase activator activity			ovary(1)	1						CGCAGAAGGCGTGCGATTCTT	0.542												
PDS5A	23244	broad.mit.edu	37	4	39871063	39871063	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:39871063C>T	uc003guv.3	-	22	2996	c.2456G>A	c.(2455-2457)GGA>GAA	p.G819E	PDS5A_uc010ifo.2_Missense_Mutation_p.G779E	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	819					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						CCACAGTTTTCCATTCTTTTC	0.308												
PDS5A	23244	broad.mit.edu	37	4	39881446	39881446	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:39881446C>A	uc003guv.3	-	18	2434	c.1894G>T	c.(1894-1896)GTG>TTG	p.V632L	PDS5A_uc010ifo.2_Missense_Mutation_p.V592L	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	632					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						ATCAATTTCACTAGTGCACTA	0.353												
PDS5A	23244	broad.mit.edu	37	4	39911885	39911885	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:39911885C>A	uc003guv.3	-	10	1606	c.1066G>T	c.(1066-1068)GAT>TAT	p.D356Y	PDS5A_uc010ifo.2_Missense_Mutation_p.D316Y|PDS5A_uc003guw.3_Missense_Mutation_p.D356Y	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	356					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						TTCGCTAAATCTGGGTGATTC	0.333												
RBM47	54502	broad.mit.edu	37	4	40440329	40440329	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:40440329G>A	uc003gvc.2	-	4	1292	c.582C>T	c.(580-582)CGC>CGT	p.R194R	RBM47_uc003gvd.2_Silent_p.R194R|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Silent_p.R156R|RBM47_uc003gvg.1_Silent_p.R194R	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	194	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(3)	3						AGGCGAAGCCGCGGTTCTTCA	0.652												
APBB2	323	broad.mit.edu	37	4	41016408	41016408	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:41016408T>C	uc003gvl.2	-	6	657	c.27A>G	c.(25-27)TCA>TCG	p.S9S	APBB2_uc003gvm.2_Silent_p.S9S|APBB2_uc003gvn.2_Silent_p.S9S|APBB2_uc011byt.1_5'UTR	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	9					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3						TGTCAACACCTGAGTCAGCTG	0.423												
LIMCH1	22998	broad.mit.edu	37	4	41683053	41683053	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:41683053A>G	uc003gvu.3	+	20	2596	c.2542A>G	c.(2542-2544)ATG>GTG	p.M848V	LIMCH1_uc003gvv.3_Missense_Mutation_p.M848V|LIMCH1_uc003gvw.3_Missense_Mutation_p.M847V|LIMCH1_uc003gvx.3_Missense_Mutation_p.M860V|LIMCH1_uc003gwe.3_Missense_Mutation_p.M771V|LIMCH1_uc003gvy.3_Missense_Mutation_p.M676V|LIMCH1_uc003gwa.3_Missense_Mutation_p.M688V|LIMCH1_uc003gvz.3_Missense_Mutation_p.M1232V|LIMCH1_uc011byu.1_Missense_Mutation_p.M681V|LIMCH1_uc003gwc.3_Missense_Mutation_p.M693V|LIMCH1_uc003gwd.3_Missense_Mutation_p.M681V|LIMCH1_uc011byv.1_Missense_Mutation_p.M598V|LIMCH1_uc011byw.1_Missense_Mutation_p.M147V	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	848					actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						CTCTTCCTCCATGACTGAAGG	0.433												
YIPF7	285525	broad.mit.edu	37	4	44624560	44624560	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:44624560G>A	uc010ifx.1	-	6	731	c.714C>T	c.(712-714)ATC>ATT	p.I238I		NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	238	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0						ACCAGCCAATGATGACCAGGG	0.453												
GABRA2	2555	broad.mit.edu	37	4	46264068	46264068	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:46264068C>T	uc003gxc.3	-	8	1607	c.934G>A	c.(934-936)GCC>ACC	p.A312T	GABRA2_uc010igc.2_Missense_Mutation_p.A312T|GABRA2_uc011bzc.1_Missense_Mutation_p.A257T|GABRA2_uc003gxe.2_Missense_Mutation_p.A312T	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	312					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAGTCCATGGCAGTTGCATAA	0.413												
NFXL1	152518	broad.mit.edu	37	4	47912972	47912972	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:47912972G>T	uc010igh.2	-	3	452	c.275C>A	c.(274-276)GCT>GAT	p.A92D	NFXL1_uc003gxp.2_Missense_Mutation_p.A92D|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.A92D	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like	92						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						AGCTTGGTTAGCTTTCTTGAT	0.328												
SLC10A4	201780	broad.mit.edu	37	4	48490841	48490841	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:48490841A>G	uc003gyc.2	+	3	1418	c.1199A>G	c.(1198-1200)GAA>GGA	p.E400G	ZAR1_uc003gyd.2_5'Flank	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	400	Extracellular (Potential).					integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)	1						GATGAAGATGAAGATACAGAT	0.353												
FRYL	285527	broad.mit.edu	37	4	48572887	48572887	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:48572887G>A	uc003gyh.1	-	27	3558	c.2953C>T	c.(2953-2955)CGA>TGA	p.R985*	FRYL_uc003gyk.2_Nonsense_Mutation_p.R985*	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	985					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						TCAAATATTCGTACCAGTTGT	0.398												
LRRC66	339977	broad.mit.edu	37	4	52861933	52861933	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:52861933C>T	uc003gzi.2	-	4	1268	c.1255G>A	c.(1255-1257)GCG>ACG	p.A419T		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	419						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						TTTGAATACGCGTTGTCCAGG	0.532												
RASL11B	65997	broad.mit.edu	37	4	53731563	53731563	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:53731563C>T	uc003gzt.2	+	4	518	c.338C>T	c.(337-339)GCT>GTT	p.A113V		NM_023940	NP_076429	Q9BPW5	RSLBB_HUMAN	RAS-like family 11 member B	113	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(32;0.0302)			TGGGCAGATGCTGTGGTGATC	0.552												
PDGFRA	5156	broad.mit.edu	37	4	54257305	54257305	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:54257305C>T	uc003haa.2	+	8	821	c.635C>T	c.(634-636)ACG>ATG	p.T212M	FIP1L1_uc003gzx.3_Missense_Mutation_p.T197M|FIP1L1_uc011bzt.1_Missense_Mutation_p.T212M|FIP1L1_uc003gzy.2_Missense_Mutation_p.T212M|FIP1L1_uc011bzu.1_Missense_Mutation_p.T197M|FIP1L1_uc003gzz.2_Missense_Mutation_p.T197M|FIP1L1_uc003hab.2_Missense_Mutation_p.T200M|FIP1L1_uc003hac.2_Missense_Mutation_p.T16M	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	Error:Variant_position_missing_in_P16234_after_alignment					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AATAAAATTACGGTAATTAAT	0.363			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)		
PDGFRA	5156	broad.mit.edu	37	4	55139788	55139788	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:55139788C>T	uc003han.3	+	10	1780	c.1449C>T	c.(1447-1449)ACC>ACT	p.T483T	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Silent_p.T377T|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	483	Ig-like C2-type 5.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ACAGGAGTACCGTGGAGGGCC	0.512			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)		
CEP135	9662	broad.mit.edu	37	4	56840987	56840987	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:56840987G>A	uc003hbi.2	+	11	1559	c.1325G>A	c.(1324-1326)CGT>CAT	p.R442H	CEP135_uc003hbj.2_Missense_Mutation_p.R148H	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	442					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					TCACCTTCTCGTTTAGATACA	0.373												
SRP72	6731	broad.mit.edu	37	4	57355575	57355575	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:57355575T>C	uc003hbv.2	+	13	1286	c.1246T>C	c.(1246-1248)TAT>CAT	p.Y416H	SRP72_uc010ihe.2_Missense_Mutation_p.Y355H|SRP72_uc003hbw.1_Missense_Mutation_p.Y177H	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	416	TPR 4.				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)					AGTTACCATGTATAGCCATGA	0.378												
POLR2B	5431	broad.mit.edu	37	4	57865857	57865857	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:57865857T>C	uc003hcl.1	+	7	853	c.810T>C	c.(808-810)ATT>ATC	p.I270I	POLR2B_uc011cae.1_Silent_p.I263I|POLR2B_uc011caf.1_Silent_p.I195I	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	270					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)					TTCCCATCATTATTGTGTTCA	0.358												
IGFBP7	3490	broad.mit.edu	37	4	57898658	57898658	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:57898658C>A	uc003hcn.2	-	4	785	c.763G>T	c.(763-765)GGA>TGA	p.G255*	IGFBP7_uc011cag.1_Nonsense_Mutation_p.G255*	NM_001553	NP_001544	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	255	Ig-like C2-type.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			lung(2)|central_nervous_system(1)	3	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAAGCCTGTCCTTGGGAATTG	0.393												
UGT2B7	7364	broad.mit.edu	37	4	69973866	69973866	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:69973866G>A	uc003heg.3	+	5	1182	c.1136G>A	c.(1135-1137)GGC>GAC	p.G379D	UGT2B7_uc010ihq.2_Intron	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2B7 precursor	379					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|skin(1)	2						GGAGCCAATGGCATCTACGAG	0.443												
C4orf40	401137	broad.mit.edu	37	4	71024255	71024255	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:71024255G>T	uc003hfa.3	+	4	359	c.286G>T	c.(286-288)GCT>TCT	p.A96S	C4orf40_uc003hfb.3_Missense_Mutation_p.A96S	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	hypothetical protein LOC401137 precursor	96						extracellular region					0						TTTTCCCTTAGCTACTCAGTT	0.507												
AMTN	401138	broad.mit.edu	37	4	71394459	71394459	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:71394459C>T	uc003hfk.1	+	6	403	c.314C>T	c.(313-315)ACA>ATA	p.T105I	AMTN_uc010ihy.1_Missense_Mutation_p.T104I	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	amelotin precursor	105					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				large_intestine(1)|central_nervous_system(1)	2			Lung(101;0.235)			ATTTTTGTCACACAACTTGGA	0.299												
GC	2638	broad.mit.edu	37	4	72634025	72634025	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:72634025T>C	uc003hge.2	-	3	407	c.254A>G	c.(253-255)GAC>GGC	p.D85G	GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Missense_Mutation_p.D85G|GC_uc010iif.2_Missense_Mutation_p.D104G	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	85	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TACCCTGGTGTCATAGCAGTC	0.517												
CCDC158	339965	broad.mit.edu	37	4	77317477	77317477	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:77317477C>T	uc003hkb.3	-	3	386	c.233G>A	c.(232-234)CGT>CAT	p.R78H	CCDC158_uc003hkd.2_Missense_Mutation_p.R78H	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	78	Potential.									skin(3)|ovary(2)|pancreas(1)	6						TTCCAAAACACGTTCAAAGTG	0.398												
SHROOM3	57619	broad.mit.edu	37	4	77661562	77661562	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:77661562C>T	uc011cbx.1	+	5	3189	c.2236C>T	c.(2236-2238)CCT>TCT	p.P746S	SHROOM3_uc011cbz.1_Missense_Mutation_p.P570S|SHROOM3_uc003hkf.1_Missense_Mutation_p.P621S|SHROOM3_uc003hkg.2_Missense_Mutation_p.P524S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	746					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			CGAAGAGCCGCCTGCCCCCTC	0.697												
BMP2K	55589	broad.mit.edu	37	4	79793950	79793950	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:79793950T>C	uc003hlk.2	+	13	1957	c.1791T>C	c.(1789-1791)AAT>AAC	p.N597N	BMP2K_uc003hlj.2_Silent_p.N597N|BMP2K_uc003hll.2_Silent_p.N61N	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	597						nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1						ATAGTGCCAATAGGCAAGTAT	0.378												
BMP2K	55589	broad.mit.edu	37	4	79832337	79832337	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:79832337A>G	uc003hlk.2	+	16	2802	c.2636A>G	c.(2635-2637)AAC>AGC	p.N879S	PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron|uc010ijm.1_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	879						nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1						AATGAAAAGAACCTCCCTCAA	0.483												
HELQ	113510	broad.mit.edu	37	4	84367172	84367172	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:84367172G>A	uc003hom.2	-	5	1639	c.1460C>T	c.(1459-1461)ACT>ATT	p.T487I	HELQ_uc010ikb.2_Missense_Mutation_p.T420I|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	487	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						CTTACTGCTAGTGTAGAGGAT	0.259								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
WDFY3	23001	broad.mit.edu	37	4	85719240	85719240	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:85719240A>G	uc003hpd.2	-	18	3252	c.2844T>C	c.(2842-2844)AGT>AGC	p.S948S		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	948						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATTTAAAGGACTTGCCAAAC	0.323												
WDFY3	23001	broad.mit.edu	37	4	85731038	85731038	+	Splice_Site	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:85731038A>G	uc003hpd.2	-	14	2753	c.2345_splice	c.e14+1	p.S782_splice	WDFY3_uc003hpf.2_Missense_Mutation_p.Y783H	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCAGAGCCATACCTGTCAAAA	0.358												
PTPN13	5783	broad.mit.edu	37	4	87637691	87637691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:87637691C>T	uc003hpz.2	+	8	1684	c.1204C>T	c.(1204-1206)CGA>TGA	p.R402*	PTPN13_uc003hpy.2_Nonsense_Mutation_p.R402*|PTPN13_uc003hqa.2_Nonsense_Mutation_p.R402*|PTPN13_uc003hqb.2_Nonsense_Mutation_p.R402*	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	402						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGAACCAGTTCGAAGATACAA	0.328												
PTPN13	5783	broad.mit.edu	37	4	87684338	87684338	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:87684338A>G	uc003hpz.2	+	24	4492	c.4012A>G	c.(4012-4014)AAA>GAA	p.K1338E	PTPN13_uc003hpy.2_Missense_Mutation_p.K1338E|PTPN13_uc003hqa.2_Missense_Mutation_p.K1319E|PTPN13_uc003hqb.2_Missense_Mutation_p.K1147E	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1338						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAAACACCAAAACAGGCATA	0.358												
KLHL8	57563	broad.mit.edu	37	4	88091339	88091339	+	Missense_Mutation	SNP	C	C	T	rs140898788		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:88091339C>T	uc011cdb.1	-	8	1814	c.1429G>A	c.(1429-1431)GTG>ATG	p.V477M	KLHL8_uc003hql.1_Missense_Mutation_p.V477M|KLHL8_uc003hqm.1_Missense_Mutation_p.V401M|KLHL8_uc003hqn.1_Missense_Mutation_p.V294M|KLHL8_uc010ikj.1_Missense_Mutation_p.V126M	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	kelch-like 8	477	Kelch 4.										0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TATCTCTCCACGCTAGATAAA	0.378												
MMRN1	22915	broad.mit.edu	37	4	90856582	90856582	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:90856582A>G	uc003hst.2	+	6	1822	c.1751A>G	c.(1750-1752)GAG>GGG	p.E584G	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.E326G	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	584	Potential.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTGGAGATGGAGAAAGAGTCT	0.343												
FAM190A	401145	broad.mit.edu	37	4	91229794	91229794	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:91229794G>A	uc003hsv.3	+	2	699	c.359G>A	c.(358-360)AGT>AAT	p.S120N	FAM190A_uc003hsu.3_Missense_Mutation_p.S120N|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.S120N	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	KIAA1680 protein isoform 1	120										large_intestine(1)|ovary(1)	2						GTTGGTTTTAGTAGTTCACGA	0.353												
ADH1B	125	broad.mit.edu	37	4	100232725	100232725	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:100232725G>T	uc003hus.3	-	7	1001	c.917C>A	c.(916-918)CCT>CAT	p.P306H	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.P266H|ADH1B_uc011ceh.1_Missense_Mutation_p.P151H|ADH1B_uc011cei.1_Missense_Mutation_p.P266H	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	306					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TAGCAGCATAGGGTTTATTGA	0.438												
ADH1C	126	broad.mit.edu	37	4	100257923	100257923	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:100257923C>T	uc003huu.2	-	11	1199	c.1114G>A	c.(1114-1116)GTC>ATC	p.V372I		NM_000669	NP_000660	P00326	ADH1G_HUMAN	class I alcohol dehydrogenase, gamma subunit	372					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AACGTCAGGACGGTACGGATA	0.418									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of			
ADH1C	126	broad.mit.edu	37	4	100266039	100266039	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:100266039A>T	uc003huu.2	-	7	632	c.547T>A	c.(547-549)TCT>ACT	p.S183T		NM_000669	NP_000660	P00326	ADH1G_HUMAN	class I alcohol dehydrogenase, gamma subunit	183					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTGACTGCAGACCCATAACCA	0.473									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of			
DDIT4L	115265	broad.mit.edu	37	4	101108963	101108963	+	Missense_Mutation	SNP	C	C	A	rs142511472		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:101108963C>A	uc003hvq.2	-	3	656	c.453G>T	c.(451-453)AGG>AGT	p.R151S		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	151					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		AGAAAAAGTCCCTGAAGCTAG	0.423												
MANBA	4126	broad.mit.edu	37	4	103553303	103553303	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:103553303G>A	uc003hwg.2	-	17	2651	c.2551C>T	c.(2551-2553)CGA>TGA	p.R851*	MANBA_uc011ces.1_Nonsense_Mutation_p.R794*	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	851					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		AATATAGTTCGTGTCTTCTCA	0.448												
TACR3	6870	broad.mit.edu	37	4	104640312	104640312	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:104640312T>C	uc003hxe.1	-	1	664	c.521A>G	c.(520-522)TAC>TGC	p.Y174C		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	174	Helical; Name=3; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CGTCATGGAGTAGATGCTGGC	0.512												
TACR3	6870	broad.mit.edu	37	4	104640558	104640558	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:104640558T>C	uc003hxe.1	-	1	418	c.275A>G	c.(274-276)TAT>TGT	p.Y92C		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	92	Helical; Name=1; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CACCACACCATACGCCAGGGA	0.617												
TBCK	93627	broad.mit.edu	37	4	107165797	107165797	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:107165797G>T	uc010ilv.2	-	11	1421	c.1056C>A	c.(1054-1056)ATC>ATA	p.I352I	TBCK_uc003hyb.2_Silent_p.I95I|TBCK_uc003hye.2_Silent_p.I313I|TBCK_uc003hyc.2_Silent_p.I289I|TBCK_uc003hyd.2_Silent_p.I180I|TBCK_uc003hyf.2_Silent_p.I352I	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	352						intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						GGAGTGTGCAGATAGGTGGTT	0.348												
SEC24B	10427	broad.mit.edu	37	4	110448484	110448484	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:110448484G>A	uc003hzk.2	+	18	3027	c.2972G>A	c.(2971-2973)CGG>CAG	p.R991Q	SEC24B_uc003hzl.2_Missense_Mutation_p.R956Q|SEC24B_uc011cfp.1_Missense_Mutation_p.R1021Q|SEC24B_uc011cfq.1_Missense_Mutation_p.R990Q|SEC24B_uc011cfr.1_Missense_Mutation_p.R955Q	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	991					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTAGGTGAGCGGAGAATTAGA	0.333												
RRH	10692	broad.mit.edu	37	4	110756617	110756617	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:110756617C>T	uc003hzv.2	+	3	427	c.393C>T	c.(391-393)GAC>GAT	p.D131D		NM_006583	NP_006574	O14718	OPSX_HUMAN	peropsin	131	Cytoplasmic.				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GCCTTCCTGACGTAGGTACAA	0.383												
EGF	1950	broad.mit.edu	37	4	110902085	110902085	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:110902085A>G	uc003hzy.3	+	15	2777	c.2325A>G	c.(2323-2325)TCA>TCG	p.S775S	EGF_uc011cfu.1_Silent_p.S733S|EGF_uc011cfv.1_Silent_p.S775S|EGF_uc010imk.2_Silent_p.S4S	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	775	Extracellular (Potential).|EGF-like 5.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGAAAGCCTCAGATGGGAAAA	0.428												
ENPEP	2028	broad.mit.edu	37	4	111398197	111398197	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:111398197G>T	uc003iab.3	+	1	969	c.627G>T	c.(625-627)ACG>ACT	p.T209T		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	209	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CCACCTACACGGAGAACGGAC	0.468												
ALPK1	80216	broad.mit.edu	37	4	113303616	113303616	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:113303616G>A	uc003iap.3	+	4	463	c.184G>A	c.(184-186)GTG>ATG	p.V62M	ALPK1_uc003iam.2_Missense_Mutation_p.V62M|ALPK1_uc011cfw.1_RNA|ALPK1_uc003ian.3_Missense_Mutation_p.V62M|ALPK1_uc011cfx.1_Intron|ALPK1_uc003iao.3_RNA|ALPK1_uc003iaq.2_Missense_Mutation_p.V6M|ALPK1_uc010imo.2_Translation_Start_Site	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	62							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GTGGCCCTTCGTGCCTGAAAA	0.512												
NEUROG2	63973	broad.mit.edu	37	4	113436101	113436101	+	Silent	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:113436101G>C	uc003ias.2	-	2	858	c.531C>G	c.(529-531)GGC>GGG	p.G177G		NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	neurogenin 2	177					positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			skin(2)|central_nervous_system(1)	3		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		ggcccccgccgccgcccccgc	0.557												
C4orf21	55345	broad.mit.edu	37	4	113533738	113533738	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:113533738T>C	uc003iau.2	-	7	2820	c.2609A>G	c.(2608-2610)AAA>AGA	p.K870R	C4orf21_uc003iaw.2_Missense_Mutation_p.K870R	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AATAAATGGTTTCCTCACTGT	0.289												
NDST3	9348	broad.mit.edu	37	4	119154277	119154277	+	Silent	SNP	A	A	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:119154277A>C	uc003ibx.2	+	9	2333	c.1930A>C	c.(1930-1932)AGG>CGG	p.R644R	NDST3_uc011cgf.1_Intron	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	644	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						TAACTACCACAGGGGGATTGA	0.348												
NDST3	9348	broad.mit.edu	37	4	119158200	119158200	+	Splice_Site	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:119158200G>T	uc003ibx.2	+	10	2347	c.1944_splice	c.e10-1	p.W648_splice	NDST3_uc011cgf.1_Splice_Site_p.V553_splice	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan							Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						TCCTTTTCTAGGTATATGGAT	0.368												
PRSS12	8492	broad.mit.edu	37	4	119216946	119216946	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:119216946T>C	uc003ica.1	-	10	1950	c.1903A>G	c.(1903-1905)AAA>GAA	p.K635E		NM_003619	NP_003610	P56730	NETR_HUMAN	neurotrypsin precursor	635	Peptidase S1.					membrane	scavenger receptor activity			skin(1)	1						AAAGAATTTTTCCCACCAATG	0.353												
PDE5A	8654	broad.mit.edu	37	4	120422378	120422378	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:120422378T>C	uc003idh.2	-	20	2592	c.2437A>G	c.(2437-2439)ATC>GTC	p.I813V	uc003ide.3_Intron|PDE5A_uc003idf.2_Missense_Mutation_p.I771V|PDE5A_uc003idg.2_Missense_Mutation_p.I761V	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	813	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	ATACTTGGGATTTTGTTTTTC	0.318												
BBS7	55212	broad.mit.edu	37	4	122749600	122749600	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:122749600T>C	uc003ied.2	-	17	2021	c.1847A>G	c.(1846-1848)CAG>CGG	p.Q616R	BBS7_uc003iee.1_Missense_Mutation_p.Q616R	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	616					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1						CAAAAGCAACTGGTACTCCAG	0.363									Bardet-Biedl_syndrome			
TRPC3	7222	broad.mit.edu	37	4	122853631	122853631	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:122853631C>T	uc003ieg.2	-	2	856	c.782G>A	c.(781-783)CGG>CAG	p.R261Q	TRPC3_uc010inr.2_Missense_Mutation_p.R188Q|TRPC3_uc003ief.2_Missense_Mutation_p.R188Q|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	176	Cytoplasmic (Potential).|ANK 4.				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						GTCGTGCGGCCGCTCGATCCT	0.602												
BBS12	166379	broad.mit.edu	37	4	123664251	123664251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:123664251C>T	uc003ieu.2	+	2	1397	c.1204C>T	c.(1204-1206)CAG>TAG	p.Q402*		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	402					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2						TCACGTGTTACAGGTGTTAAT	0.408									Bardet-Biedl_syndrome			
PLK4	10733	broad.mit.edu	37	4	128807646	128807646	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:128807646G>A	uc003ifo.2	+	5	1366	c.1121G>A	c.(1120-1122)CGT>CAT	p.R374H	PLK4_uc011cgs.1_Missense_Mutation_p.R342H|PLK4_uc011cgt.1_Missense_Mutation_p.R333H	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	374					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						CGATACCTTCGTAGAGCTTAT	0.398												
PLK4	10733	broad.mit.edu	37	4	128815008	128815008	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:128815008C>T	uc003ifo.2	+	13	2779	c.2534C>T	c.(2533-2535)CCA>CTA	p.P845L	PLK4_uc011cgs.1_Missense_Mutation_p.P813L|PLK4_uc011cgt.1_Missense_Mutation_p.P804L	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	845					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						GCTGCttctccaacacaggca	0.219												
PCDH10	57575	broad.mit.edu	37	4	134071764	134071764	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:134071764C>T	uc003iha.2	+	1	1295	c.469C>T	c.(469-471)CGC>TGC	p.R157C	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R157C	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	157	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CAACTCCTTGCGCGACTACGA	0.622												
NAA15	80155	broad.mit.edu	37	4	140281667	140281667	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:140281667C>T	uc003ihu.1	+	13	1680	c.1424C>T	c.(1423-1425)GCG>GTG	p.A475V		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	475					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2						GGAACATCAGCGGTAGAGAAT	0.328												
TBC1D9	23158	broad.mit.edu	37	4	141545515	141545515	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:141545515T>C	uc010ioj.2	-	19	3199	c.2927A>G	c.(2926-2928)CAG>CGG	p.Q976R		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	976						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATCTGCACCCTGTTTGCTTCT	0.378												
TBC1D9	23158	broad.mit.edu	37	4	141590886	141590886	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:141590886G>A	uc010ioj.2	-	8	1611	c.1339C>T	c.(1339-1341)CGC>TGC	p.R447C		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	447						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTAAACTGGCGCTCTCCATCA	0.557												
HHIP	64399	broad.mit.edu	37	4	145659078	145659078	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:145659078A>G	uc003ijs.1	+	13	2727	c.2072A>G	c.(2071-2073)TAC>TGC	p.Y691C		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	691						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		ATGACATCTTACTTGCTGGAT	0.358												
ANAPC10	10393	broad.mit.edu	37	4	145916541	145916541	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:145916541T>A	uc003iju.3	-	6	697	c.542A>T	c.(541-543)TAT>TTT	p.Y181F	ANAPC10_uc003ijv.3_Missense_Mutation_p.Y181F|ANAPC10_uc003ijw.3_Missense_Mutation_p.Y181F	NM_014885	NP_055700	Q9UM13	APC10_HUMAN	anaphase promoting complex subunit 10	181	DOC.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin-protein ligase activity				0	all_hematologic(180;0.151)					TATTGAACGATACATCATGAA	0.303												
DCLK2	166614	broad.mit.edu	37	4	151000285	151000285	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:151000285A>G	uc003ilm.3	+	1	206	c.106A>G	c.(106-108)AGC>GGC	p.S36G	DCLK2_uc003iln.3_Missense_Mutation_p.S36G|DCLK2_uc003ilo.3_Missense_Mutation_p.S36G|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	36					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					GGGCAGCAGCAGCTCGGGCCC	0.697												
PET112L	5188	broad.mit.edu	37	4	152622631	152622631	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:152622631G>A	uc003iml.2	-	9	1059	c.1047C>T	c.(1045-1047)TAC>TAT	p.Y349Y		NM_004564	NP_004555	O75879	GATB_HUMAN	PET112-like precursor	349						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding				0	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)			L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ATGTGGCGTCGTAGAGCACCA	0.552												
FBXW7	55294	broad.mit.edu	37	4	153249384	153249384	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:153249384C>T	uc003ims.2	-	9	1543	c.1394G>A	c.(1393-1395)CGT>CAT	p.R465H	FBXW7_uc011cii.1_Missense_Mutation_p.R465H|FBXW7_uc003imt.2_Missense_Mutation_p.R465H|FBXW7_uc011cih.1_Missense_Mutation_p.R289H|FBXW7_uc003imq.2_Missense_Mutation_p.R385H|FBXW7_uc003imr.2_Missense_Mutation_p.R347H	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	465	WD 3.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R465C(52)|p.R465H(36)|p.R465L(2)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCATACAACGCACAGTGGA	0.408			Mis|N|D|F		colorectal|endometrial|T-ALL							
KIAA0922	23240	broad.mit.edu	37	4	154512227	154512227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:154512227C>T	uc003inm.3	+	17	1742	c.1690C>T	c.(1690-1692)CGA>TGA	p.R564*	KIAA0922_uc010ipp.2_Nonsense_Mutation_p.R565*|KIAA0922_uc010ipq.2_Intron	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	564	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				GGGAACAACTCGATTTGCTCA	0.303												
KIAA0922	23240	broad.mit.edu	37	4	154553946	154553946	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:154553946C>T	uc003inm.3	+	32	4333	c.4281C>T	c.(4279-4281)AAC>AAT	p.N1427N	KIAA0922_uc010ipp.2_Silent_p.N1428N|KIAA0922_uc010ipq.2_Silent_p.N1196N	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	1427	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				CCCTGGAGAACGGCGTGCCTT	0.537												
PLRG1	5356	broad.mit.edu	37	4	155467035	155467035	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:155467035G>T	uc003iny.2	-	6	508	c.445C>A	c.(445-447)CGA>AGA	p.R149R	PLRG1_uc003inz.2_Silent_p.R140R|PLRG1_uc011cil.1_5'UTR	NM_002669	NP_002660	O43660	PLRG1_HUMAN	pleiotropic regulator 1 (PRL1 homolog,	149						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity				0	all_hematologic(180;0.215)	Renal(120;0.0854)				CCAGGATGTCGGTATTCACTT	0.428												
LRAT	9227	broad.mit.edu	37	4	155665906	155665906	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:155665906G>A	uc003iom.1	+	1	755	c.428G>A	c.(427-429)CGG>CAG	p.R143Q	uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.R143Q	NM_004744	NP_004735	O95237	LRAT_HUMAN	lecithin retinol acyltransferase	143	Cytoplasmic (By similarity).				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)	1	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GAGGTGGCGCGGAGGGCTGAA	0.582												
GRIA2	2891	broad.mit.edu	37	4	158142933	158142933	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:158142933C>A	uc003ipm.3	+	2	662	c.203C>A	c.(202-204)GCA>GAA	p.A68E	GRIA2_uc011cit.1_Missense_Mutation_p.A21E|GRIA2_uc003ipl.3_Missense_Mutation_p.A68E|GRIA2_uc003ipk.3_Missense_Mutation_p.A21E|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	68	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TTGGAGGTGGCAAACAGCTTC	0.448												
GRIA2	2891	broad.mit.edu	37	4	158257028	158257028	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:158257028G>T	uc003ipm.3	+	10	1931	c.1472G>T	c.(1471-1473)GGG>GTG	p.G491V	GRIA2_uc011cit.1_Missense_Mutation_p.G444V|GRIA2_uc003ipl.3_Missense_Mutation_p.G491V|GRIA2_uc003ipk.3_Missense_Mutation_p.G444V|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	491	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTTGTATATGGGGTAAGTATA	0.413												
ANP32C	23520	broad.mit.edu	37	4	165118819	165118819	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:165118819C>T	uc011cjk.1	-	1	45	c.45G>A	c.(43-45)GCG>GCA	p.A15A	MARCH1_uc003iqs.1_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	acidic nuclear phosphoprotein 32C	15											0	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		CATCAGAGGGCGCCCTGTTCC	0.502												
TRIM60	166655	broad.mit.edu	37	4	165961350	165961350	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:165961350A>G	uc003iqy.1	+	3	296	c.126A>G	c.(124-126)GTA>GTG	p.V42V	TRIM60_uc010iqx.1_Silent_p.V42V	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	ring finger protein 129	42	RING-type.					intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GCCTCAGTGTATCCTGGAAGG	0.507												
TRIM60	166655	broad.mit.edu	37	4	165962586	165962586	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:165962586T>C	uc003iqy.1	+	3	1532	c.1362T>C	c.(1360-1362)ACT>ACC	p.T454T	TRIM60_uc010iqx.1_Silent_p.T454T	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	ring finger protein 129	454	B30.2/SPRY.					intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		ATTTCTATACTGGAACAGATT	0.353												
DDX60L	91351	broad.mit.edu	37	4	169312784	169312784	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:169312784A>G	uc003irq.3	-	29	4043	c.3822T>C	c.(3820-3822)GCT>GCC	p.A1274A	DDX60L_uc003irr.1_Silent_p.A1275A	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1274	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GTGTTTCAGTAGCTGTCACTA	0.378												
SH3RF1	57630	broad.mit.edu	37	4	170038929	170038929	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:170038929C>T	uc003isa.1	-	9	1857	c.1522G>A	c.(1522-1524)GTG>ATG	p.V508M	SH3RF1_uc010irc.1_Missense_Mutation_p.V208M	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	508	Interaction with AKT2 (By similarity).					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GCATTTGTCACCGCCCTGCCA	0.488												
NEK1	4750	broad.mit.edu	37	4	170428902	170428902	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:170428902C>A	uc003isb.1	-	20	2283	c.1791G>T	c.(1789-1791)GAG>GAT	p.E597D	NEK1_uc003isc.1_Missense_Mutation_p.E553D|NEK1_uc003isd.1_Missense_Mutation_p.E625D|NEK1_uc003ise.1_Missense_Mutation_p.E581D|NEK1_uc003isf.1_Missense_Mutation_p.E528D	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	597					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCATGTCAGCCTCTTCACTTC	0.353												
GALNT7	51809	broad.mit.edu	37	4	174216924	174216924	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:174216924T>C	uc003isz.3	+	5	978	c.895T>C	c.(895-897)TAC>CAC	p.Y299H	GALNT7_uc011ckb.1_Missense_Mutation_p.Y76H	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	299	Catalytic subdomain A.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)	1		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GGTTTTGATATACCTTGATGC	0.348												
HMGB2	3148	broad.mit.edu	37	4	174254316	174254316	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:174254316T>C	uc011ckc.1	-	2	320	c.200A>G	c.(199-201)GAC>GGC	p.D67G	HMGB2_uc003ita.3_Missense_Mutation_p.D67G|HMGB2_uc003itb.2_Missense_Mutation_p.D67G|HMGB2_uc003itc.2_Missense_Mutation_p.D67G	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN	high-mobility group box 2	67	HMG box 1.				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding				0		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GCGAGCTTTGTCACTTTTTGC	0.403												
KIAA1712	80817	broad.mit.edu	37	4	175224861	175224861	+	Missense_Mutation	SNP	G	G	A	rs146429616	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:175224861G>A	uc003itr.2	+	5	659	c.245G>A	c.(244-246)CGT>CAT	p.R82H	KIAA1712_uc010iro.2_Missense_Mutation_p.R82H|KIAA1712_uc003its.2_RNA	NM_001040157	NP_001035247	Q9C0F1	CEP44_HUMAN	HBV PreS1-transactivated protein 3 isoform a	82						centrosome|midbody|spindle pole					0		Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949)		CAGCTTCTTCGTGATCAATTT	0.338												
WDR17	116966	broad.mit.edu	37	4	177058747	177058747	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:177058747A>G	uc003iuj.2	+	10	1572	c.1416A>G	c.(1414-1416)ATA>ATG	p.I472M	WDR17_uc003iuk.2_Missense_Mutation_p.I448M|WDR17_uc003ium.3_Missense_Mutation_p.I448M|WDR17_uc003iul.1_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	472	WD 7.									ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GCAAAATTATACAACGATTTA	0.229												
ASB5	140458	broad.mit.edu	37	4	177142697	177142697	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:177142697C>A	uc003iuq.1	-	4	455	c.439G>T	c.(439-441)GGC>TGC	p.G147C	ASB5_uc003iup.1_Missense_Mutation_p.G94C	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box-containing protein	147	ANK 3.				intracellular signal transduction					skin(2)	2		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		CTTGGACTGCCTTGGGAGCAT	0.473												
ODZ3	55714	broad.mit.edu	37	4	183676001	183676001	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:183676001G>A	uc003ivd.1	+	21	4518	c.4481G>A	c.(4480-4482)CGG>CAG	p.R1494Q	ODZ3_uc003ive.1_Missense_Mutation_p.R907Q	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1494	Extracellular (Potential).|NHL 5.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGGAATATCCGGATCCGGGCT	0.458												
ODZ3	55714	broad.mit.edu	37	4	183713688	183713688	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:183713688A>G	uc003ivd.1	+	25	5900	c.5863A>G	c.(5863-5865)AGG>GGG	p.R1955G		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1955	Extracellular (Potential).|YD 10.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AAGGCAGACTAGGCTCTCAGA	0.433												
ODZ3	55714	broad.mit.edu	37	4	183714662	183714662	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:183714662A>G	uc003ivd.1	+	25	6874	c.6837A>G	c.(6835-6837)GGA>GGG	p.G2279G		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2279	Extracellular (Potential).|YD 23.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ATCTCCAAGGACATCTTTTTG	0.418												
DCTD	1635	broad.mit.edu	37	4	183836080	183836080	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:183836080C>T	uc003ivf.2	-	3	414	c.240G>A	c.(238-240)CCG>CCA	p.P80P	DCTD_uc003ivg.2_Silent_p.P91P|DCTD_uc010irw.2_Intron|DCTD_uc003ivh.2_Intron	NM_001921	NP_001912	P32321	DCTD_HUMAN	dCMP deaminase isoform b	80					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding				0		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		CCCTACCGTACGGGTATTTGG	0.473												
CLDN22	53842	broad.mit.edu	37	4	184240790	184240790	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:184240790T>C	uc010isa.1	-	1	1138	c.582A>G	c.(580-582)CTA>CTG	p.L194L	WWC2_uc010irx.2_3'UTR|WWC2_uc003ivk.3_3'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_3'UTR|WWC2_uc003ivn.3_3'UTR|WWC2_uc010irz.2_3'UTR|WWC2_uc003ivo.3_3'UTR	NM_001111319	NP_001104789	Q8N7P3	CLD22_HUMAN	claudin 22	194	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GGCCCGAAGCTAGGGGAGCGT	0.547												
CDKN2AIP	55602	broad.mit.edu	37	4	184367702	184367702	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:184367702G>A	uc003ivp.1	+	3	1027	c.865G>A	c.(865-867)GAG>AAG	p.E289K	CDKN2AIP_uc003ivq.1_Missense_Mutation_p.E34K	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	289	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding				0		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CTCAGAGATCGAGGTGCCCTT	0.473												
KIAA1430	57587	broad.mit.edu	37	4	186097046	186097046	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:186097046G>A	uc003ixf.3	-	3	1361	c.1214C>T	c.(1213-1215)CCG>CTG	p.P405L	KIAA1430_uc003ixg.2_Missense_Mutation_p.P405L	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	hypothetical protein LOC57587	405	Potential.										0		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TTTGCTTCCCGGCTTTTCCGC	0.453												
MTNR1A	4543	broad.mit.edu	37	4	187455571	187455571	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:187455571G>A	uc003izd.1	-	2	343	c.325C>T	c.(325-327)CTG>TTG	p.L109L		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	109	Helical; Name=3; (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	ATGACGCTCAGGCCCATCAGG	0.527												
FAT1	2195	broad.mit.edu	37	4	187541543	187541543	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:187541543A>G	uc003izf.2	-	10	6385	c.6197T>C	c.(6196-6198)GTC>GCC	p.V2066A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2066	Extracellular (Potential).|Cadherin 18.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GACCTTCACGACAACGTGGGC	0.517										HNSCC(5;0.00058)		
FAT1	2195	broad.mit.edu	37	4	187628340	187628340	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:187628340C>T	uc003izf.2	-	2	2830	c.2642G>A	c.(2641-2643)CGC>CAC	p.R881H	FAT1_uc010iso.1_Missense_Mutation_p.R881H	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	881	Extracellular (Potential).|Cadherin 7.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ATCCAGAGGGCGTGCGATGTT	0.512										HNSCC(5;0.00058)		
FAT1	2195	broad.mit.edu	37	4	187630439	187630439	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:187630439G>A	uc003izf.2	-	2	731	c.543C>T	c.(541-543)AAC>AAT	p.N181N	FAT1_uc010iso.1_Silent_p.N181N	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	181	Extracellular (Potential).|Cadherin 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						AAAATTCCCCGTTGGTTCCTA	0.428										HNSCC(5;0.00058)		
TUBB4Q	56604	broad.mit.edu	37	4	190905597	190905597	+	Splice_Site	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:190905597A>G	uc011clg.1	-	2	166	c.163_splice	c.e2+1	p.G55_splice		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q						'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)		CGGGGGTCGCACCGCTGGCCT	0.692												
SLC12A7	10723	broad.mit.edu	37	5	1053568	1053568	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:1053568G>A	uc003jbu.2	-	23	3122	c.3056C>T	c.(3055-3057)ACG>ATG	p.T1019M		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	1019	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CTTCACAGCCGTGTGCATCCG	0.657												
SLC12A7	10723	broad.mit.edu	37	5	1081759	1081759	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:1081759G>T	uc003jbu.2	-	9	1296	c.1230C>A	c.(1228-1230)CCC>CCA	p.P410P		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	410					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TGAGCACGTAGGGCAGTGCGC	0.612												
LPCAT1	79888	broad.mit.edu	37	5	1467001	1467001	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:1467001T>C	uc003jcm.2	-	13	1400	c.1283A>G	c.(1282-1284)TAC>TGC	p.Y428C	LPCAT1_uc003jcl.2_Missense_Mutation_p.Y2C	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	428	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TTGCGCTCCGTACATCTGCAA	0.662												
LPCAT1	79888	broad.mit.edu	37	5	1477549	1477549	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:1477549T>C	uc003jcm.2	-	9	986	c.869A>G	c.(868-870)TAT>TGT	p.Y290C		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	290	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GTTGCTGGCATACAGCGCGGG	0.567												
LPCAT1	79888	broad.mit.edu	37	5	1501684	1501684	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:1501684C>T	uc003jcm.2	-	2	287	c.170G>A	c.(169-171)CGG>CAG	p.R57Q		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	57	Cytoplasmic (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		AACCAGGAGCCGGACCGGGAA	0.662												
SEMA5A	9037	broad.mit.edu	37	5	9197388	9197388	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:9197388G>A	uc003jek.2	-	10	1672	c.960C>T	c.(958-960)TGC>TGT	p.C320C		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	320	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						GGTTGAAGACGCACACAGCTG	0.622												
DNAH5	1767	broad.mit.edu	37	5	13753574	13753574	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:13753574C>T	uc003jfd.2	-	63	10682	c.10640G>A	c.(10639-10641)CGG>CAG	p.R3547Q	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3547					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CATTTCCTTCCGCCAGTCATT	0.388									Kartagener_syndrome			
TRIO	7204	broad.mit.edu	37	5	14291024	14291024	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:14291024C>T	uc003jff.2	+	5	746	c.740C>T	c.(739-741)CCT>CTT	p.P247L	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.P198L|TRIO_uc003jfh.1_5'Flank	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	247					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					AAGGAGCTGCCTCAGGATTTA	0.493												
CDH12	1010	broad.mit.edu	37	5	21802400	21802400	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:21802400C>T	uc010iuc.2	-	7	1590	c.1132G>A	c.(1132-1134)GTA>ATA	p.V378I	CDH12_uc011cno.1_Missense_Mutation_p.V338I|CDH12_uc003jgk.2_Missense_Mutation_p.V378I	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	378	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						GGCTCATCTACGTCCAGCACG	0.537										HNSCC(59;0.17)		
PRDM9	56979	broad.mit.edu	37	5	23522902	23522902	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:23522902G>C	uc003jgo.2	+	8	972	c.790G>C	c.(790-792)GCA>CCA	p.A264P		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	264	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						ATGGAATGAGGCATCTGATCT	0.577										HNSCC(3;0.000094)		
TARS	6897	broad.mit.edu	37	5	33456256	33456256	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:33456256G>A	uc003jhy.2	+	8	1056	c.761G>A	c.(760-762)TGT>TAT	p.C254Y	TARS_uc011cob.1_Missense_Mutation_p.C242Y|TARS_uc010iup.1_Missense_Mutation_p.C195Y|TARS_uc011coc.1_Missense_Mutation_p.C275Y|TARS_uc003jhz.2_Missense_Mutation_p.C150Y|TARS_uc011cod.1_Missense_Mutation_p.C133Y	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	254					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)	ATCTTTAGATGTGGCCCTTTG	0.333												
RXFP3	51289	broad.mit.edu	37	5	33938173	33938173	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:33938173C>A	uc003jic.1	+	1	1685	c.1328C>A	c.(1327-1329)CCG>CAG	p.P443Q		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	443	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						gccgcggAGCCGGACCTGCTC	0.572												
AMACR	23600	broad.mit.edu	37	5	34005900	34005900	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:34005900G>A	uc003jig.2	-	2	434	c.352C>T	c.(352-354)CGG>TGG	p.R118W	AMACR_uc003jih.2_Missense_Mutation_p.R118W|AMACR_uc003jii.2_Missense_Mutation_p.R118W|AMACR_uc003jij.2_Missense_Mutation_p.R118W|AMACR_uc003jil.1_Missense_Mutation_p.R118W|AMACR_uc003jik.1_Missense_Mutation_p.R118W	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase isoform 1	118					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity				0						CCAGCTAACCGGCAGAAGCTT	0.438												
C1QTNF3	114899	broad.mit.edu	37	5	34020736	34020736	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:34020736G>C	uc003jin.2	-	6	780	c.693C>G	c.(691-693)CAC>CAG	p.H231Q	C1QTNF3_uc003jim.2_Missense_Mutation_p.H111Q|C1QTNF3_uc003jio.2_Missense_Mutation_p.H304Q	NM_030945	NP_112207	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	231	C1q.					collagen					0	all_lung(31;0.0207)					AGAAGCGTTGGTGGTCCCCAT	0.483												
RAI14	26064	broad.mit.edu	37	5	34823970	34823970	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:34823970T>C	uc003jir.2	+	15	2219	c.2023T>C	c.(2023-2025)TAT>CAT	p.Y675H	RAI14_uc010iur.2_Missense_Mutation_p.Y646H|RAI14_uc011coj.1_Missense_Mutation_p.Y675H|RAI14_uc003jis.2_Missense_Mutation_p.Y678H|RAI14_uc003jit.2_Missense_Mutation_p.Y675H|RAI14_uc011cok.1_Missense_Mutation_p.Y667H	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	675	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					CACAGCTGAATATATCCATAA	0.443												
PRLR	5618	broad.mit.edu	37	5	35086328	35086328	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:35086328A>G	uc003jjm.2	-	4	715	c.185T>C	c.(184-186)CTG>CCG	p.L62P	PRLR_uc003jjg.1_Missense_Mutation_p.L62P|PRLR_uc003jjh.1_Missense_Mutation_p.L62P|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Missense_Mutation_p.L62P|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Intron|PRLR_uc010iuw.1_5'UTR	NM_000949	NP_000940	P16471	PRLR_HUMAN	prolactin receptor precursor	62	Fibronectin type-III 1.|Extracellular (Potential).				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			ovary(2)|skin(1)	3	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTGGTAAGTCAGTGAATAATT	0.473												
C5orf42	65250	broad.mit.edu	37	5	37183564	37183564	+	Silent	SNP	G	G	A	rs143084362	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:37183564G>A	uc011cpa.1	-	26	4950	c.4719C>T	c.(4717-4719)GAC>GAT	p.D1573D	C5orf42_uc011coy.1_Silent_p.D74D|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Silent_p.D648D|C5orf42_uc011cpb.1_Silent_p.D454D	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1573										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GAAATGGAATGTCAGCATCCC	0.318												
C5orf42	65250	broad.mit.edu	37	5	37183688	37183688	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:37183688T>C	uc011cpa.1	-	26	4826	c.4595A>G	c.(4594-4596)CAA>CGA	p.Q1532R	C5orf42_uc011coy.1_Missense_Mutation_p.Q33R|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.Q607R|C5orf42_uc011cpb.1_Missense_Mutation_p.Q413R	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1532										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AAGTGTATTTTGTGATAACTT	0.303												
WDR70	55100	broad.mit.edu	37	5	37697794	37697794	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:37697794C>T	uc003jkv.2	+	11	1188	c.1130C>T	c.(1129-1131)TCG>TTG	p.S377L	WDR70_uc010iva.1_3'UTR	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	377	WD 5.									ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTCATGACTCGGGCACAGAC	0.388												
LIFR	3977	broad.mit.edu	37	5	38506647	38506647	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:38506647G>A	uc010ive.1	-	8	1411	c.1079C>T	c.(1078-1080)GCG>GTG	p.A360V	LIFR_uc003jli.2_Missense_Mutation_p.A360V	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	360	Fibronectin type-III 2.|Extracellular (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					GCCCACCAACGCTGTCACCCT	0.408			T	PLAG1	salivary adenoma							
C9	735	broad.mit.edu	37	5	39341309	39341309	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:39341309G>A	uc003jlv.3	-	4	504	c.415C>T	c.(415-417)CGT>TGT	p.R139C		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	139	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CAGGGGGGACGGGGCTCACTT	0.463												
HEATR7B2	133558	broad.mit.edu	37	5	41009402	41009402	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:41009402C>T	uc003jmj.3	-	32	3890	c.3400G>A	c.(3400-3402)GCC>ACC	p.A1134T	HEATR7B2_uc003jmi.3_Missense_Mutation_p.A689T	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1134	HEAT 12.						binding			ovary(6)|central_nervous_system(2)	8						TCAACCCTGGCGATGTCATCT	0.502												
ZNF131	7690	broad.mit.edu	37	5	43174664	43174664	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:43174664A>G	uc011cpw.1	+	7	1337	c.1301A>G	c.(1300-1302)GAA>GGA	p.E434G	ZNF131_uc003jnj.3_Missense_Mutation_p.E155G|ZNF131_uc003jnk.2_Missense_Mutation_p.E400G|ZNF131_uc003jnn.3_Missense_Mutation_p.E155G|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	zinc finger protein 131	434	C2H2-type 6.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CAAGGAAATGAATTAAGGAGG	0.393												
C5orf34	375444	broad.mit.edu	37	5	43505850	43505850	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:43505850C>A	uc003jnz.1	-	5	1249	c.932G>T	c.(931-933)AGG>ATG	p.R311M	C5orf34_uc011cpx.1_Missense_Mutation_p.R197M	NM_198566	NP_940968	Q96MH7	CE034_HUMAN	hypothetical protein LOC375444	311										breast(1)	1	Lung NSC(6;2.07e-05)					ACTGCATTACCTGTGTAGGTG	0.393												
HCN1	348980	broad.mit.edu	37	5	45262085	45262085	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:45262085A>G	uc003jok.2	-	8	2636	c.2611T>C	c.(2611-2613)TCT>CCT	p.S871P		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	871	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						ACTGAGGAAGATTCTCTTGGA	0.527												
HCN1	348980	broad.mit.edu	37	5	45262174	45262174	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:45262174A>T	uc003jok.2	-	8	2547	c.2522T>A	c.(2521-2523)CTC>CAC	p.L841H		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	841	Cytoplasmic (Potential).			L -> F (in Ref. 2; AAC39759).		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						CTGTCGGAAGAGGGTGACGCG	0.672												
HCN1	348980	broad.mit.edu	37	5	45262506	45262506	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:45262506C>T	uc003jok.2	-	8	2215	c.2190G>A	c.(2188-2190)ATG>ATA	p.M730I		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	730	Gln-rich.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						gctgctgttgcATGAGTGACA	0.458												
PARP8	79668	broad.mit.edu	37	5	50090765	50090765	+	Silent	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:50090765G>C	uc003jon.3	+	13	1124	c.942G>C	c.(940-942)ACG>ACC	p.T314T	PARP8_uc011cpz.1_Silent_p.T206T|PARP8_uc003joo.2_Silent_p.T314T|PARP8_uc003jop.2_Silent_p.T314T	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	314						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				TCTCCAAAACGCATAAGCTGC	0.483												
FST	10468	broad.mit.edu	37	5	52779453	52779453	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:52779453G>A	uc003jpd.2	+	3	424	c.397G>A	c.(397-399)GGG>AGG	p.G133R	FST_uc003jpc.2_Missense_Mutation_p.G133R	NM_013409	NP_037541	P19883	FST_HUMAN	follistatin isoform FST344 precursor	133	Kazal-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity				0		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				TCCAGTCTGCGGGCTGGATGG	0.517												
SNX18	112574	broad.mit.edu	37	5	53815133	53815133	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:53815133G>A	uc003jpj.3	+	1	1541	c.1351G>A	c.(1351-1353)GAG>AAG	p.E451K	SNX18_uc011cqg.1_Missense_Mutation_p.E451K|SNX18_uc003jpi.3_Missense_Mutation_p.E451K	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	451	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CACGGCCAACGAGTTCGCGCG	0.607												
IL31RA	133396	broad.mit.edu	37	5	55185844	55185844	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:55185844A>G	uc003jql.2	+	6	718	c.653A>G	c.(652-654)TAC>TGC	p.Y218C	IL31RA_uc003jqk.2_Missense_Mutation_p.Y218C|IL31RA_uc011cqj.1_Missense_Mutation_p.Y76C|IL31RA_uc003jqm.2_Missense_Mutation_p.Y186C|IL31RA_uc003jqn.2_Missense_Mutation_p.Y218C|IL31RA_uc010iwa.1_Missense_Mutation_p.Y186C|IL31RA_uc003jqo.2_Missense_Mutation_p.Y76C	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	186	Extracellular (Potential).|Fibronectin type-III 2.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AACCAAACGTACAACCTCACG	0.453												
ANKRD55	79722	broad.mit.edu	37	5	55455711	55455711	+	Silent	SNP	C	C	T	rs138714495	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:55455711C>T	uc003jqu.2	-	6	584	c.432G>A	c.(430-432)ACG>ACA	p.T144T		NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	143	ANK 4.									skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GCAACAGGACCGTGAGGAGCC	0.453												
PLK2	10769	broad.mit.edu	37	5	57753397	57753397	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:57753397T>C	uc003jrn.2	-	6	854	c.727A>G	c.(727-729)ACC>GCC	p.T243A		NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	243	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|lung(1)|skin(1)	4		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TAATTTGGGGTACCACATATC	0.408												
RAB3C	115827	broad.mit.edu	37	5	58147175	58147175	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:58147175C>T	uc003jrp.2	+	5	778	c.681C>T	c.(679-681)TGC>TGT	p.C227C		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	227					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)|central_nervous_system(1)	2		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		ACTGTGCCTGCTAGTGTCCCC	0.502												
DEPDC1B	55789	broad.mit.edu	37	5	59982907	59982907	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:59982907C>T	uc003jsh.2	-	2	269	c.196G>A	c.(196-198)GAA>AAA	p.E66K	DEPDC1B_uc011cqm.1_Missense_Mutation_p.E66K|DEPDC1B_uc011cqn.1_Missense_Mutation_p.E39K	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	66	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CGGGTCACTTCAGGGCCGAAG	0.473												
C5orf43	643155	broad.mit.edu	37	5	60455971	60455971	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:60455971A>G	uc010iwm.1	-	3	455	c.28T>C	c.(28-30)TAT>CAT	p.Y10H	C5orf43_uc010iwl.1_RNA	NM_001048249	NP_001041714	Q7Z3B0	CE043_HUMAN	hypothetical protein LOC643155	10						integral to membrane					0						TCCACAACATACTCAGCCCAA	0.478												
ADAMTS6	11174	broad.mit.edu	37	5	64520823	64520823	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:64520823G>A	uc003jtp.2	-	17	2933	c.2119C>T	c.(2119-2121)CGA>TGA	p.R707*	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Nonsense_Mutation_p.R328*	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	707					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CCACAGACTCGACATCTATCT	0.453												
MAST4	375449	broad.mit.edu	37	5	66460174	66460174	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:66460174G>T	uc003jut.1	+	28	4668	c.4600G>T	c.(4600-4602)GTC>TTC	p.V1534F	MAST4_uc003juw.2_Missense_Mutation_p.V1462F|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1726						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGGGAACCCAGTCCGACCCAC	0.592												
OCLN	4950	broad.mit.edu	37	5	68805476	68805476	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:68805476T>C	uc003jwu.2	+	3	995	c.559T>C	c.(559-561)TTT>CTT	p.F187L	OCLN_uc003jwv.3_Missense_Mutation_p.F187L	NM_002538	NP_002529			occludin												0		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CATCATGGTGTTTATTGCCAC	0.383												
BDP1	55814	broad.mit.edu	37	5	70751890	70751890	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:70751890G>A	uc003kbp.1	+	1	449	c.186G>A	c.(184-186)GAG>GAA	p.E62E	BDP1_uc003kbn.1_Silent_p.E62E|BDP1_uc003kbo.2_Silent_p.E62E	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	62	Interaction with ZBTB43.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GTGGAGCGGAGCCCCAAGAAA	0.602												
ZNF366	167465	broad.mit.edu	37	5	71740012	71740012	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:71740012C>A	uc003kce.1	-	5	1992	c.1806G>T	c.(1804-1806)CCG>CCT	p.P602P		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ACTGGAACACCGGCACCTTGG	0.647												
TNPO1	3842	broad.mit.edu	37	5	72171563	72171563	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:72171563A>C	uc003kck.3	+	8	947	c.800A>C	c.(799-801)GAG>GCG	p.E267A	TNPO1_uc011csi.1_RNA|TNPO1_uc011csj.1_Missense_Mutation_p.E217A|TNPO1_uc003kch.2_Missense_Mutation_p.E259A|TNPO1_uc003kci.3_Missense_Mutation_p.E259A|TNPO1_uc003kcg.3_Missense_Mutation_p.E259A	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	267					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AATATAGTTGAGGTAACACTG	0.413												
TNPO1	3842	broad.mit.edu	37	5	72201192	72201192	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:72201192T>C	uc003kck.3	+	24	2799	c.2652T>C	c.(2650-2652)TTT>TTC	p.F884F	TNPO1_uc011csj.1_Silent_p.F834F|TNPO1_uc003kch.2_Silent_p.F876F|TNPO1_uc003kci.3_Silent_p.F876F|TNPO1_uc003kcg.3_Silent_p.F876F	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	884					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CTGACCAGTTTCCTCTTCCCT	0.358												
TMEM174	134288	broad.mit.edu	37	5	72469088	72469088	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:72469088C>T	uc010izc.2	+	1	66	c.18C>T	c.(16-18)GGC>GGT	p.G6G		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	transmembrane protein 174	6						integral to membrane				ovary(1)	1		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		AGGGCAGCGGCCGCTTGGAGG	0.547												
HMGCR	3156	broad.mit.edu	37	5	74655258	74655258	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:74655258T>C	uc003kdp.2	+	18	2490	c.2334T>C	c.(2332-2334)ATT>ATC	p.I778I	HMGCR_uc011cst.1_Silent_p.I798I|HMGCR_uc003kdq.2_Silent_p.I725I|HMGCR_uc010izo.2_Intron|HMGCR_uc010izp.2_Intron	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	778	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CAAACTGTATTACTTTAATGG	0.388												
F2RL2	2151	broad.mit.edu	37	5	75913673	75913673	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:75913673G>T	uc003kem.2	-	2	1044	c.859C>A	c.(859-861)CGG>AGG	p.R287R	IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Silent_p.R265R	NM_004101	NP_004092	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	287	Cytoplasmic (Potential).				platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			skin(2)|ovary(1)	3		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		TTAAGTGTCCGGATGATGGCT	0.403												
VCAN	1462	broad.mit.edu	37	5	82834774	82834774	+	Silent	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:82834774T>G	uc003kii.3	+	8	6308	c.5952T>G	c.(5950-5952)TCT>TCG	p.S1984S	VCAN_uc003kij.3_Silent_p.S997S|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.S648S	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1984	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GTCACATATCTGACTCAGAAG	0.502												
EDIL3	10085	broad.mit.edu	37	5	83680139	83680139	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:83680139G>A	uc003kio.1	-	1	473	c.54C>T	c.(52-54)CCC>CCT	p.P18P	EDIL3_uc003kip.1_Silent_p.P18P	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	18					cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGCCGAACTGGGGGACACCGA	0.701												
POU5F2	134187	broad.mit.edu	37	5	93076928	93076928	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:93076928C>T	uc003kkl.1	-	1	382	c.342G>A	c.(340-342)CCG>CCA	p.P114P	FAM172A_uc010jbd.2_Intron|FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	114						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CCTCTGGCGGCGGCAACTTCG	0.627												
FAM172A	83989	broad.mit.edu	37	5	93217235	93217235	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:93217235A>G	uc010jbd.2	-	7	934	c.727T>C	c.(727-729)TTC>CTC	p.F243L	FAM172A_uc011cuf.1_Missense_Mutation_p.F197L|FAM172A_uc011cug.1_Missense_Mutation_p.F133L|FAM172A_uc011cuh.1_Missense_Mutation_p.F96L|FAM172A_uc011cui.1_RNA|FAM172A_uc011cuj.1_Intron|FAM172A_uc003kkm.3_Missense_Mutation_p.F243L	NM_032042	NP_114431	Q8WUF8	F172A_HUMAN	hypothetical protein LOC83989 isoform 1	243						endoplasmic reticulum|extracellular region					0						TTCTCATAGAAATCACGTCGC	0.353												
MCTP1	79772	broad.mit.edu	37	5	94278101	94278101	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:94278101C>T	uc003kkx.2	-	4	1012	c.1012G>A	c.(1012-1014)GAC>AAC	p.D338N	MCTP1_uc003kkv.2_Missense_Mutation_p.D117N|MCTP1_uc003kkw.2_Missense_Mutation_p.D117N|MCTP1_uc003kkz.2_5'UTR	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	338	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CCCATAAAGTCATCCTGTAGT	0.353												
RHOBTB3	22836	broad.mit.edu	37	5	95116060	95116060	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:95116060G>A	uc003klm.2	+	9	1924	c.1387G>A	c.(1387-1389)GTT>ATT	p.V463I		NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	463	BTB 2.|Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CCTGATTCCCGTTTATGGTGT	0.458												
PCSK1	5122	broad.mit.edu	37	5	95746544	95746544	+	Silent	SNP	G	G	A	rs145132329		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:95746544G>A	uc003kls.1	-	8	1235	c.1029C>T	c.(1027-1029)TAC>TAT	p.Y343Y	PCSK1_uc010jbi.1_Intron	NM_000439	NP_000430	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	343	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			ovary(2)	2		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACTTCTCAGCGTACCAGGGGG	0.527												
PCSK1	5122	broad.mit.edu	37	5	95768714	95768714	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:95768714A>G	uc003kls.1	-	1	239	c.33T>C	c.(31-33)ACT>ACC	p.T11T		NM_000439	NP_000430	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	11					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			ovary(2)	2		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGACGAAAGCAGTGCACTGCA	0.527												
FAM174A	345757	broad.mit.edu	37	5	99871377	99871377	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:99871377C>A	uc003knj.1	+	1	263	c.143C>A	c.(142-144)CCT>CAT	p.P48H	uc003kni.2_5'Flank	NM_198507	NP_940909	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	48	Pro-rich.|Extracellular (Potential).					integral to membrane					0						CCTCCTGACCCTAGACCACGG	0.716												
PAM	5066	broad.mit.edu	37	5	102249696	102249696	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:102249696C>T	uc003knw.2	+	4	700	c.327C>T	c.(325-327)TGC>TGT	p.C109C	PAM_uc003kns.2_Silent_p.C109C|PAM_uc003knt.2_Silent_p.C109C|PAM_uc003knu.2_Silent_p.C109C|PAM_uc003knv.2_Silent_p.C109C|PAM_uc011cuz.1_Silent_p.C12C	NM_000919	NP_000910	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	109	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).|Intragranular (Potential).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding				0		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TTTTTGGATGCAATATGCCTT	0.383												
EPB41L4A	64097	broad.mit.edu	37	5	111600713	111600713	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:111600713G>A	uc003kpv.1	-	6	708	c.434C>T	c.(433-435)TCG>TTG	p.S145L	EPB41L4A_uc003kpw.1_Missense_Mutation_p.S145L	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	145	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TCCAAGCTCCGCTAAAAAAGA	0.318												
APC	324	broad.mit.edu	37	5	112163629	112163629	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:112163629A>G	uc010jby.2	+	13	1932	c.1552A>G	c.(1552-1554)ACG>GCG	p.T518A	APC_uc011cvt.1_Missense_Mutation_p.T500A|APC_uc003kpz.3_Missense_Mutation_p.T518A|APC_uc003kpy.3_Missense_Mutation_p.T518A|APC_uc010jbz.2_Missense_Mutation_p.T235A|APC_uc010jca.2_Intron	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	518	ARM 2.|Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTTACAGGCTACGCTATGCTC	0.343		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
APC	324	broad.mit.edu	37	5	112164588	112164588	+	Silent	SNP	A	A	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:112164588A>C	uc010jby.2	+	14	2042	c.1662A>C	c.(1660-1662)CGA>CGC	p.R554R	APC_uc011cvt.1_Silent_p.R536R|APC_uc003kpz.3_Silent_p.R554R|APC_uc003kpy.3_Silent_p.R554R|APC_uc010jbz.2_Silent_p.R271R|APC_uc010jca.2_Intron	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	554	ARM 3.|Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R554*(4)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGTCTTGGCGAGCAGATGTAA	0.303		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
SRP19	6728	broad.mit.edu	37	5	112227678	112227678	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:112227678A>G	uc011cvv.1	+	4	672	c.417A>G	c.(415-417)GAA>GAG	p.E139E	SRP19_uc011cvu.1_Silent_p.E124E|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron			P09132	SRP19_HUMAN	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		agttaaaggaacaatggaaag	0.164												
MCC	4163	broad.mit.edu	37	5	112399736	112399736	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:112399736C>T	uc003kqj.3	-	12	2118	c.1588G>A	c.(1588-1590)GTG>ATG	p.V530M	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.V720M|MCC_uc011cwb.1_Missense_Mutation_p.V530M	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	530					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CAGCCGGCCACGGCAAAGGCT	0.627												
AQPEP	206338	broad.mit.edu	37	5	115319108	115319108	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:115319108T>C	uc003kro.2	+	2	984	c.820T>C	c.(820-822)TCC>CCC	p.S274P	AQPEP_uc003krp.2_RNA	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	274	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						TGTGGCCCTTTCCAACATGCC	0.373												
SEMA6A	57556	broad.mit.edu	37	5	115818188	115818188	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:115818188G>T	uc010jck.2	-	11	1755	c.1046C>A	c.(1045-1047)CCT>CAT	p.P349H	SEMA6A_uc003krx.3_Missense_Mutation_p.P349H|SEMA6A_uc010jcj.2_5'Flank	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	349	Sema.|Extracellular (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGTGGAATCAGGAGACTTCTG	0.428												
DMXL1	1657	broad.mit.edu	37	5	118485620	118485620	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:118485620T>A	uc003ksd.2	+	18	4279	c.4098T>A	c.(4096-4098)AAT>AAA	p.N1366K	DMXL1_uc010jcl.1_Missense_Mutation_p.N1366K	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1366										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTGAATCTAATCATGAACGCC	0.468												
CEP120	153241	broad.mit.edu	37	5	122714072	122714072	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:122714072G>T	uc003ktk.2	-	16	2236	c.2154C>A	c.(2152-2154)GAC>GAA	p.D718E	CEP120_uc011cwq.1_Missense_Mutation_p.D527E|CEP120_uc010jcz.1_Missense_Mutation_p.D692E	NM_153223	NP_694955	Q8N960	CE120_HUMAN	coiled-coil domain containing 100	718	Potential.					centrosome				ovary(1)	1						GCTTCTCCAAGTCAATTAGAG	0.279												
CSNK1G3	1456	broad.mit.edu	37	5	122926163	122926163	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:122926163T>C	uc003ktm.2	+	9	1620	c.901T>C	c.(901-903)TAT>CAT	p.Y301H	CSNK1G3_uc003ktl.2_Missense_Mutation_p.Y301H|CSNK1G3_uc003ktn.2_Missense_Mutation_p.Y301H|CSNK1G3_uc003kto.2_Missense_Mutation_p.Y301H|CSNK1G3_uc011cwr.1_Missense_Mutation_p.Y226H|CSNK1G3_uc011cws.1_Missense_Mutation_p.Y189H|CSNK1G3_uc010jda.2_Missense_Mutation_p.Y302H	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3 isoform 1	301	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AAAACCAGACTATGACTACTT	0.284												
FBN2	2201	broad.mit.edu	37	5	127641256	127641256	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:127641256T>C	uc003kuu.2	-	44	6060	c.5621A>G	c.(5620-5622)TAC>TGC	p.Y1874C		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1874	EGF-like 30; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTCACAGCGGTAACTACCAGG	0.458												
FBN2	2201	broad.mit.edu	37	5	127668616	127668616	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:127668616T>C	uc003kuu.2	-	32	4649	c.4210A>G	c.(4210-4212)ATC>GTC	p.I1404V	FBN2_uc003kuv.2_Missense_Mutation_p.I1371V	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1404	EGF-like 22; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATACACTTGATGCCGTTTCCA	0.413												
CDC42SE2	56990	broad.mit.edu	37	5	130726771	130726771	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:130726771C>T	uc003kvh.2	+	5	854	c.242C>T	c.(241-243)ACG>ATG	p.T81M	CDC42SE2_uc003kvi.2_Missense_Mutation_p.T81M|CDC42SE2_uc003kvj.2_Missense_Mutation_p.T81M|CDC42SE2_uc003kvk.2_RNA|CDC42SE2_uc003kvl.2_Missense_Mutation_p.T81M	NM_020240	NP_064625	Q9NRR3	C42S2_HUMAN	CDC42 small effector 2	81					phagocytosis|regulation of cell shape|regulation of signal transduction	cell projection|cytoplasm|cytoskeleton|phagocytic cup	protein binding|structural molecule activity				0		all_cancers(142;0.0525)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCGTGGATACGAAGGCGGGA	0.493												
RAPGEF6	51735	broad.mit.edu	37	5	130782200	130782200	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:130782200G>A	uc003kvn.1	-	22	3603	c.3397C>T	c.(3397-3399)CAG>TAG	p.Q1133*	RAPGEF6_uc003kvp.1_Nonsense_Mutation_p.Q1183*|RAPGEF6_uc003kvo.1_Nonsense_Mutation_p.Q1146*|RAPGEF6_uc010jdi.1_Nonsense_Mutation_p.Q1141*|RAPGEF6_uc010jdj.1_Nonsense_Mutation_p.Q1141*|RAPGEF6_uc003kvq.2_Nonsense_Mutation_p.Q858*|RAPGEF6_uc003kvr.2_Nonsense_Mutation_p.Q1133*|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc003kvm.1_Nonsense_Mutation_p.Q56*	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	1133					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GGCTCCCACTGTAATGACATC	0.398												
SLC22A5	6584	broad.mit.edu	37	5	131728210	131728210	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:131728210C>T	uc003kww.3	+	8	1617	c.1353C>T	c.(1351-1353)GCC>GCT	p.A451A	SLC22A5_uc003kwx.3_Silent_p.A475A|SLC22A5_uc010jdr.1_Silent_p.A71A	NM_003060	NP_003051	O76082	S22A5_HUMAN	solute carrier family 22 member 5	451	Helical; Name=10; (Potential).				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity				0		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TGTACACAGCCGAGCTGTATC	0.532												
RAD50	10111	broad.mit.edu	37	5	131931338	131931338	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:131931338C>T	uc003kxi.2	+	13	2430	c.2043C>T	c.(2041-2043)TGC>TGT	p.C681C	RAD50_uc003kxh.2_Silent_p.C542C	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	681	Zinc-hook.	Zinc (By similarity).			DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTCATGTTGCCCCGTTTGTC	0.418								Homologous_recombination				
RAD50	10111	broad.mit.edu	37	5	131939124	131939124	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:131939124T>C	uc003kxi.2	+	14	2727	c.2340T>C	c.(2338-2340)CCT>CCC	p.P780P	RAD50_uc003kxh.2_Silent_p.P641P	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	780					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAATAATGCCTGAAGAAGAAA	0.373								Homologous_recombination				
CCNI2	645121	broad.mit.edu	37	5	132088655	132088655	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:132088655C>T	uc003kxq.1	+	6	1154	c.1103C>T	c.(1102-1104)GCC>GTC	p.A368V	CCNI2_uc011cxg.1_Missense_Mutation_p.A384V|CCNI2_uc011cxh.1_Missense_Mutation_p.A369V|SEPT8_uc003kxr.2_Intron	NM_001039780	NP_001034869	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2	368					regulation of cyclin-dependent protein kinase activity		protein kinase binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGTCACCTGCCAACTAGCCC	0.498												
GDF9	2661	broad.mit.edu	37	5	132197346	132197346	+	Missense_Mutation	SNP	G	G	A	rs142443414		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:132197346G>A	uc003kxz.1	-	2	1552	c.1300C>T	c.(1300-1302)CCC>TCC	p.P434S	GDF9_uc011cxj.1_Missense_Mutation_p.P346S	NM_005260	NP_005251	O60383	GDF9_HUMAN	growth differentiation factor 9 precursor	434					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			skin(1)	1		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGCCATCGGGCTCAATGGTC	0.453												
TRPC7	57113	broad.mit.edu	37	5	135692515	135692515	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:135692515G>A	uc003lbn.1	-	1	561	c.558C>T	c.(556-558)GGC>GGT	p.G186G	TRPC7_uc010jef.1_Silent_p.G178G|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.G178G|TRPC7_uc010jei.1_Silent_p.G178G|TRPC7_uc010jej.1_5'UTR	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	187	Cytoplasmic (Potential).|ANK 4.				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGATGCGGGCGCCCTTGAGCA	0.622												
PKD2L2	27039	broad.mit.edu	37	5	137230252	137230252	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:137230252T>C	uc003lby.2	+	4	534	c.478T>C	c.(478-480)TCT>CCT	p.S160P	PKD2L2_uc010jep.1_Missense_Mutation_p.S100P|PKD2L2_uc003lbw.1_Missense_Mutation_p.S160P|PKD2L2_uc003lbx.2_Missense_Mutation_p.S160P	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	160	Extracellular (Potential).					integral to membrane	calcium ion binding|ion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAAATATACTTCTGCAAATGA	0.338												
NME5	8382	broad.mit.edu	37	5	137464980	137464980	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:137464980A>G	uc003lce.2	-	3	385	c.307T>C	c.(307-309)TTA>CTA	p.L103L	BRD8_uc003lcc.1_Intron	NM_003551	NP_003542	P56597	NDK5_HUMAN	non-metastatic cells 5, protein expressed in	103					anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTCGCTACTAAGCTATTATTT	0.393												
HSPA9	3313	broad.mit.edu	37	5	137903347	137903347	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:137903347C>T	uc003ldf.2	-	6	708	c.600G>A	c.(598-600)TCG>TCA	p.S200S	HSPA9_uc011cyw.1_Silent_p.S131S	NM_004134	NP_004125	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 precursor	200					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCTGTCTCTGCGAGTCATTGA	0.393												
SLC23A1	9963	broad.mit.edu	37	5	138715727	138715727	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:138715727C>T	uc003leh.2	-	7	783	c.686G>A	c.(685-687)CGC>CAC	p.R229H	SLC23A1_uc003leg.2_Missense_Mutation_p.R233H	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (nucleobase	229					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GGTGAGGTTGCGCAGGTACTG	0.602												
HBEGF	1839	broad.mit.edu	37	5	139715543	139715543	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:139715543G>T	uc003lfi.2	-	4	743	c.468C>A	c.(466-468)ACC>ACA	p.T156T	HBEGF_uc010jfj.2_RNA	NM_001945	NP_001936	Q99075	HBEGF_HUMAN	heparin-binding EGF-like growth factor	156	Extracellular (Potential).				epidermal growth factor receptor signaling pathway|muscle organ development|positive regulation of protein kinase B signaling cascade|positive regulation of wound healing	cell surface|extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|eukaryotic cell surface binding|growth factor activity|heparin binding|receptor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGTCATAGGTATATAAGC	0.532												
SLC4A9	83697	broad.mit.edu	37	5	139745425	139745425	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:139745425G>A	uc003lfm.2	+	13	1824	c.1789G>A	c.(1789-1791)GGC>AGC	p.G597S	SLC4A9_uc003lfj.2_Missense_Mutation_p.G573S|SLC4A9_uc011czg.1_Intron|SLC4A9_uc003lfl.2_Missense_Mutation_p.G573S|SLC4A9_uc003lfk.2_Missense_Mutation_p.G559S	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	597	Extracellular (Potential).|Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGGACTTAGGCCTGATCAA	0.572												
SLC4A9	83697	broad.mit.edu	37	5	139750733	139750733	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:139750733G>A	uc003lfm.2	+	18	2588	c.2553G>A	c.(2551-2553)GCG>GCA	p.A851A	SLC4A9_uc003lfj.2_Silent_p.A827A|SLC4A9_uc011czg.1_Silent_p.A764A|SLC4A9_uc003lfl.2_Silent_p.A827A|SLC4A9_uc003lfk.2_Silent_p.A813A	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	851	Helical; (Potential).|Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGCAGCGCTCAGCAGCA	0.363												
APBB3	10307	broad.mit.edu	37	5	139941704	139941704	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:139941704C>T	uc003lgd.1	-	6	966	c.607G>A	c.(607-609)GTG>ATG	p.V203M	APBB3_uc003lgb.1_Translation_Start_Site|APBB3_uc003lgc.1_Translation_Start_Site|APBB3_uc003lge.1_Missense_Mutation_p.V203M|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_Intron|APBB3_uc011czi.1_Translation_Start_Site|APBB3_uc010jfq.1_5'Flank|SLC35A4_uc003lgg.1_5'Flank|SLC35A4_uc003lgh.1_5'Flank	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	203	PID 1.					actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTCCCCACGCCCCACACA	0.602												
HARS2	23438	broad.mit.edu	37	5	140073551	140073551	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140073551T>C	uc003lgx.2	+	3	431	c.215T>C	c.(214-216)GTT>GCT	p.V72A	HARS_uc003lgv.2_5'Flank|HARS_uc011czm.1_5'Flank|HARS_uc003lgw.2_5'Flank|HARS_uc011czn.1_5'Flank|HARS_uc010jfu.2_5'Flank|HARS_uc011czo.1_5'Flank|HARS_uc011czp.1_5'Flank|HARS_uc011czq.1_5'Flank|HARS2_uc010jfv.1_Missense_Mutation_p.V2A|HARS2_uc011czr.1_Missense_Mutation_p.V47A|HARS2_uc011czs.1_Missense_Mutation_p.V2A|HARS2_uc011czt.1_Intron|HARS2_uc011czu.1_5'Flank	NM_012208	NP_036340	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2 precursor	72					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCATATGGTTGTGAGGGAG	0.423												
PCDHA1	56147	broad.mit.edu	37	5	140166895	140166895	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140166895G>A	uc003lhb.2	+	1	1020	c.1020G>A	c.(1018-1020)GTG>GTA	p.V340V	PCDHA1_uc003lha.2_Silent_p.V340V|PCDHA1_uc003lgz.2_Silent_p.V340V	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	340	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGAAAGTGCTGGATGTAA	0.438												
PCDHA3	56145	broad.mit.edu	37	5	140182288	140182288	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140182288C>T	uc003lhf.2	+	1	1506	c.1506C>T	c.(1504-1506)CGC>CGT	p.R502R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.R502R	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	502	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGGAGCGCGCGCTGTCGA	0.687												
PCDHA7	56141	broad.mit.edu	37	5	140215836	140215836	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140215836G>A	uc003lhq.2	+	1	1868	c.1868G>A	c.(1867-1869)CGC>CAC	p.R623H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R623H	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	623	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCGTTCCGCGTGGGGCTG	0.632												
PCDHAC2	56134	broad.mit.edu	37	5	140347507	140347507	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140347507G>A	uc003lii.2	+	1	1396	c.1156G>A	c.(1156-1158)GTT>ATT	p.V386I	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.V386I	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	386	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTGTGGCCGTTCTCAGTGT	0.557												
PCDHB3	56132	broad.mit.edu	37	5	140481019	140481019	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140481019C>T	uc003lio.2	+	1	786	c.786C>T	c.(784-786)GTC>GTT	p.V262V	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	262	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTCATTGTCACTGTCTCGG	0.403												
PCDHB3	56132	broad.mit.edu	37	5	140482199	140482199	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140482199G>A	uc003lio.2	+	1	1966	c.1966G>A	c.(1966-1968)GCC>ACC	p.A656T	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	656	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGCCACCGCCACGCTGCA	0.706												
PCDHB5	26167	broad.mit.edu	37	5	140515726	140515726	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140515726A>G	uc003liq.2	+	1	927	c.710A>G	c.(709-711)GAC>GGC	p.D237G		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	237	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATAATAATGACAACGCCCCC	0.527												
PCDHB16	57717	broad.mit.edu	37	5	140563826	140563826	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140563826G>A	uc003liv.2	+	1	2847	c.1692G>A	c.(1690-1692)CCG>CCA	p.P564P		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	564	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGTACCCGCTGCAGAACG	0.721												
PCDHB9	56127	broad.mit.edu	37	5	140568846	140568846	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140568846G>A	uc003liw.1	+	3	1955	c.1955G>A	c.(1954-1956)CGC>CAC	p.R652H		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	652	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCCTCCTCGCTCGGCCACC	0.711												
PCDHB10	56126	broad.mit.edu	37	5	140573722	140573722	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140573722G>T	uc003lix.2	+	1	1771	c.1597G>T	c.(1597-1599)GCC>TCC	p.A533S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	533	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCGTGGGCGCCACAGACCG	0.687												
PCDHB10	56126	broad.mit.edu	37	5	140574355	140574355	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140574355G>A	uc003lix.2	+	1	2404	c.2230G>A	c.(2230-2232)GCT>ACT	p.A744T		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	744	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGAGGGGCGCTGAGACCCT	0.622												
PCDHB14	56122	broad.mit.edu	37	5	140604455	140604455	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140604455G>A	uc003ljb.2	+	1	1378	c.1378G>A	c.(1378-1380)GTC>ATC	p.V460I	PCDHB14_uc011dal.1_Missense_Mutation_p.V307I	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	460	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCCTGTTCGTCCGCGAGAA	0.612												
PCDHGA1	56114	broad.mit.edu	37	5	140712134	140712134	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140712134C>T	uc003lji.1	+	1	1883	c.1883C>T	c.(1882-1884)ACG>ATG	p.T628M	PCDHGA1_uc011dan.1_Missense_Mutation_p.T628M	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	628	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTGCGCACGGCGCGAGCC	0.697												
PCDHGA2	56113	broad.mit.edu	37	5	140720244	140720244	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140720244C>T	uc003ljk.1	+	1	1891	c.1706C>T	c.(1705-1707)ACA>ATA	p.T569I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.T569I	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	569	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTCCCCACAGACGGTTCC	0.637												
PCDHGA3	56112	broad.mit.edu	37	5	140724590	140724590	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140724590A>G	uc003ljm.1	+	1	990	c.990A>G	c.(988-990)AGA>AGG	p.R330R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.R90R|PCDHGA3_uc011dap.1_Silent_p.R330R	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	330	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTTTCAAGAGCCAAGATTC	0.413												
PCDHGA3	56112	broad.mit.edu	37	5	140725787	140725787	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140725787A>G	uc003ljm.1	+	1	2187	c.2187A>G	c.(2185-2187)GGA>GGG	p.G729G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.G489G|PCDHGA3_uc011dap.1_Silent_p.G729G	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	729	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCTTCGGGAGGCGGCTTGG	0.682												
PCDHGB1	56104	broad.mit.edu	37	5	140731931	140731931	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140731931G>A	uc003ljo.1	+	1	2104	c.2104G>A	c.(2104-2106)GCG>ACG	p.A702T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Missense_Mutation_p.A702T|PCDHGA4_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	702	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTCTCCTCGCGGTGATTCT	0.622												
PCDHGA5	56110	broad.mit.edu	37	5	140744704	140744704	+	Silent	SNP	A	A	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140744704A>C	uc003lju.1	+	1	807	c.807A>C	c.(805-807)CCA>CCC	p.P269P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.P269P	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	269	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACGGATCCAGATGAGGGAA	0.493												
PCDHGA8	9708	broad.mit.edu	37	5	140773186	140773186	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140773186C>T	uc003lkd.1	+	1	1704	c.806C>T	c.(805-807)CCG>CTG	p.P269L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.P269L	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	269	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGCGACCCGGATGAGGGA	0.458												
PCDHGB5	56101	broad.mit.edu	37	5	140779329	140779329	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140779329C>T	uc003lkf.1	+	1	1635	c.1635C>T	c.(1633-1635)CGC>CGT	p.R545R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.R545R	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	545	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCCTGCGCGTGTTGGTGG	0.682												
PCDHGB5	56101	broad.mit.edu	37	5	140779398	140779398	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140779398T>C	uc003lkf.1	+	1	1704	c.1704T>C	c.(1702-1704)TCT>TCC	p.S568S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.S568S	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	568	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGACGGCTCTGCGCTCTTCG	0.677												
PCDHGA11	56105	broad.mit.edu	37	5	140801741	140801741	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140801741A>G	uc003lkq.1	+	1	1205	c.947A>G	c.(946-948)TAT>TGT	p.Y316C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.Y316C|PCDHGA11_uc003lkp.1_Missense_Mutation_p.Y316C	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	316	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATAGATTCTATGAGATGGAA	0.413												
PCDHGC3	5098	broad.mit.edu	37	5	140856553	140856553	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140856553C>T	uc003lkv.1	+	1	985	c.870C>T	c.(868-870)GGC>GGT	p.G290G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Silent_p.G290G|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	290	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCGCCGGCGTGCGGCAAC	0.562												
DIAPH1	1729	broad.mit.edu	37	5	140960325	140960325	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140960325C>T	uc003llb.3	-	8	951	c.810G>A	c.(808-810)CCG>CCA	p.P270P	DIAPH1_uc003llc.3_Silent_p.P261P	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	270	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTGGCTGCGGTAGAATAC	0.423												
FCHSD1	89848	broad.mit.edu	37	5	141028814	141028814	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:141028814C>T	uc003llk.2	-	6	488	c.437G>A	c.(436-438)CGA>CAA	p.R146Q	FCHSD1_uc010jgg.2_5'Flank|FCHSD1_uc003llj.2_RNA	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	146	Potential.								FCHSD1/BRAF(2)	skin(2)|ovary(1)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCGACTTCGGCTCAGCTC	0.602												
ARAP3	64411	broad.mit.edu	37	5	141051820	141051820	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:141051820C>T	uc003llm.2	-	10	1512	c.1434G>A	c.(1432-1434)CTG>CTA	p.L478L	ARAP3_uc011dbe.1_Silent_p.L140L|ARAP3_uc003lln.2_Silent_p.L400L|ARAP3_uc003llo.1_Silent_p.L478L	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	478	PH 2.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						CTGCTTCCTGCAGAGCGGCCG	0.637												
KIAA0141	9812	broad.mit.edu	37	5	141313826	141313826	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:141313826G>A	uc003lls.2	+	9	1041	c.919G>A	c.(919-921)GCT>ACT	p.A307T	KIAA0141_uc003llt.2_Missense_Mutation_p.A307T|KIAA0141_uc003llu.1_RNA	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor	307	TPR 3.				apoptosis|regulation of caspase activity	mitochondrion	protein binding			skin(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCAGTTGGCTGCCAGCCA	0.542												
ARHGAP26	23092	broad.mit.edu	37	5	142437228	142437228	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:142437228G>A	uc011dbj.1	+	17	1489	c.1454G>A	c.(1453-1455)CGG>CAG	p.R485Q	ARHGAP26_uc003lmt.2_Missense_Mutation_p.R485Q|ARHGAP26_uc003lmw.2_Missense_Mutation_p.R485Q	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	GTPase regulator associated with the focal	485	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(1)	1		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGAGTCTCGGGTCTCTGAA	0.443												
FBXO38	81545	broad.mit.edu	37	5	147807425	147807425	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:147807425C>T	uc003lpf.1	+	15	2688	c.2568C>T	c.(2566-2568)GAC>GAT	p.D856D	FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	856						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGTTGTGACGTGCAGTCTA	0.582												
FBXO38	81545	broad.mit.edu	37	5	147820078	147820078	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:147820078T>C	uc003lpf.1	+	20	3382	c.3262T>C	c.(3262-3264)TAT>CAT	p.Y1088H	FBXO38_uc003lpg.1_Missense_Mutation_p.Y1013H|FBXO38_uc003lph.2_Missense_Mutation_p.Y843H	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	1088						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAGAAATCTATACTTTAGA	0.284												
PPARGC1B	133522	broad.mit.edu	37	5	149225444	149225444	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:149225444C>T	uc003lrc.2	+	11	2980	c.2938C>T	c.(2938-2940)CGG>TGG	p.R980W	PPARGC1B_uc003lrb.1_Missense_Mutation_p.R980W|PPARGC1B_uc003lrd.2_Missense_Mutation_p.R941W|PPARGC1B_uc003lrf.2_Missense_Mutation_p.R959W|PPARGC1B_uc003lre.1_Missense_Mutation_p.R959W	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	980					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CGGAGGGCTCCGGCACTTCTG	0.587												
PDGFRB	5159	broad.mit.edu	37	5	149498370	149498370	+	Silent	SNP	C	C	G	rs55647240	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:149498370C>G	uc003lro.2	-	21	3313	c.2844G>C	c.(2842-2844)CGG>CGC	p.R948R	PDGFRB_uc010jhd.2_Silent_p.R787R	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	948	Cytoplasmic (Potential).|Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGAAGGGGGGCCGAATCTCAA	0.572			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML							
PDGFRB	5159	broad.mit.edu	37	5	149514495	149514495	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:149514495C>T	uc003lro.2	-	4	918	c.449G>A	c.(448-450)CGA>CAA	p.R150Q	PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Missense_Mutation_p.R150Q	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	150	Extracellular (Potential).|Ig-like C2-type 2.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCTGTTACTCGGCATGGAAT	0.522			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML							
TCOF1	6949	broad.mit.edu	37	5	149755683	149755683	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:149755683C>T	uc003lry.2	+	13	2040	c.1932C>T	c.(1930-1932)TGC>TGT	p.C644C	TCOF1_uc003lrw.2_Silent_p.C644C|TCOF1_uc011dch.1_Silent_p.C644C|TCOF1_uc003lrz.2_Silent_p.C644C|TCOF1_uc003lrx.2_Silent_p.C567C|TCOF1_uc003lsa.2_Silent_p.C567C|TCOF1_uc011dci.1_Silent_p.C133C	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	644					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAAGGCCTGCCCAAAGAAAA	0.562												
FAT2	2196	broad.mit.edu	37	5	150885144	150885144	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:150885144A>G	uc003lue.3	-	23	13045	c.13032T>C	c.(13030-13032)TGT>TGC	p.C4344C	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.C951C	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4344	Cytoplasmic (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACCTCCTCACAGCTGCCAT	0.597												
G3BP1	10146	broad.mit.edu	37	5	151179536	151179536	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:151179536T>C	uc003lun.2	+	9	1101	c.930T>C	c.(928-930)ATT>ATC	p.I310I	G3BP1_uc003lum.2_Silent_p.I310I|G3BP1_uc011dcu.1_Silent_p.I128I|G3BP1_uc010jhz.2_Silent_p.I128I|G3BP1_uc003luq.2_5'UTR	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	310					Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GAATAAATATTCCTCCCCAAA	0.468												
KIF4B	285643	broad.mit.edu	37	5	154394212	154394212	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:154394212C>A	uc010jih.1	+	1	953	c.793C>A	c.(793-795)CGA>AGA	p.R265R		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	265	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAATATTAACCGAGGCCTCCT	0.453												
HAVCR2	84868	broad.mit.edu	37	5	156535954	156535954	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:156535954A>G	uc003lwk.1	-	1	185	c.41T>C	c.(40-42)CTG>CCG	p.L14P	HAVCR2_uc003lwl.2_Missense_Mutation_p.L14P	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	14						integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAGTAGCAGCAGCAGCAGCAG	0.299												
MED7	9443	broad.mit.edu	37	5	156566347	156566347	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:156566347G>T	uc010jik.2	-	2	488	c.96C>A	c.(94-96)CCC>CCA	p.P32P	MED7_uc003lwm.3_Silent_p.P32P	NM_001100816	NP_001094286	O43513	MED7_HUMAN	mediator complex subunit 7	32					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity				0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGAGGCTTGGGAGCTAAGC	0.448												
CYFIP2	26999	broad.mit.edu	37	5	156816338	156816338	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:156816338G>A	uc003lwq.2	+	31	3487	c.3349G>A	c.(3349-3351)GTC>ATC	p.V1117I	CYFIP2_uc011ddn.1_Missense_Mutation_p.V1091I|CYFIP2_uc011ddo.1_Missense_Mutation_p.V921I|CYFIP2_uc003lwr.2_Missense_Mutation_p.V1117I|CYFIP2_uc003lws.2_Missense_Mutation_p.V1117I|CYFIP2_uc003lwt.2_Missense_Mutation_p.V1020I|CYFIP2_uc011ddp.1_Missense_Mutation_p.V851I|CYFIP2_uc003lwv.2_Missense_Mutation_p.V72I	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1142					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACCAATGGCGTCATGCACGT	0.622												
EBF1	1879	broad.mit.edu	37	5	158139180	158139180	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:158139180C>T	uc010jip.2	-	14	1833	c.1531G>A	c.(1531-1533)GCC>ACC	p.A511T	EBF1_uc011ddw.1_Missense_Mutation_p.A379T|EBF1_uc011ddx.1_Missense_Mutation_p.A512T|EBF1_uc003lxl.3_Missense_Mutation_p.A480T	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	511	Pro/Ser/Thr-rich.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGGAGTTGGCAGCTGAGCCG	0.567			T	HMGA2	lipoma							
FABP6	2172	broad.mit.edu	37	5	159659202	159659202	+	Silent	SNP	C	C	T	rs147149907		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:159659202C>T	uc003lya.1	+	2	293	c.165C>T	c.(163-165)TCC>TCT	p.S55S	FABP6_uc003lxx.1_Silent_p.S104S|FABP6_uc003lxz.1_Silent_p.S104S	NM_001445	NP_001436	P51161	FABP6_HUMAN	gastrotropin isoform 2	55					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCACTACTCCGGGGGCCACA	0.562												
GABRA1	2554	broad.mit.edu	37	5	161322768	161322768	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:161322768C>T	uc010jiw.2	+	10	1421	c.953C>T	c.(952-954)GCC>GTC	p.A318V	GABRA1_uc010jix.2_Missense_Mutation_p.A318V|GABRA1_uc010jiy.2_Missense_Mutation_p.A318V|GABRA1_uc003lyx.3_Missense_Mutation_p.A318V|GABRA1_uc010jiz.2_Missense_Mutation_p.A318V|GABRA1_uc010jja.2_Missense_Mutation_p.A318V|GABRA1_uc010jjb.2_Missense_Mutation_p.A318V	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	318	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TGGTTTATTGCCGTGTGCTAT	0.453												
WWC1	23286	broad.mit.edu	37	5	167812369	167812369	+	Missense_Mutation	SNP	A	A	G	rs138784388		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:167812369A>G	uc003lzu.2	+	3	476	c.383A>G	c.(382-384)TAC>TGC	p.Y128C	WWC1_uc003lzv.2_Missense_Mutation_p.Y128C|WWC1_uc011den.1_Missense_Mutation_p.Y128C	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	128	Potential.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CAGCAGGAGTACCAGCAACTG	0.587												
STK10	6793	broad.mit.edu	37	5	171523526	171523526	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:171523526C>T	uc003mbo.1	-	8	1209	c.909G>A	c.(907-909)CTG>CTA	p.L303L		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	303							ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCAGCTCCCGCAGAGCCTTGT	0.622												
UBTD2	92181	broad.mit.edu	37	5	171661162	171661162	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:171661162C>T	uc003mbp.1	-	2	397	c.271G>A	c.(271-273)GCA>ACA	p.A91T		NM_152277	NP_689490	Q8WUN7	UBTD2_HUMAN	dendritic cell-derived ubiquitin-like protein	91						cytoplasm					0	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCAATGATTGCTTGTGCCAGT	0.433												
DUSP1	1843	broad.mit.edu	37	5	172196764	172196764	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:172196764G>A	uc003mbv.1	-	3	795	c.547C>T	c.(547-549)CTG>TTG	p.L183L	DUSP1_uc011dez.1_Silent_p.L41L|DUSP1_uc003mbu.1_Silent_p.L71L	NM_004417	NP_004408	P28562	DUS1_HUMAN	dual specificity phosphatase 1	183	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			breast(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GCACTGCCCAGGTACAGAAAG	0.532												
NKX2-5	1482	broad.mit.edu	37	5	172661785	172661785	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:172661785T>C	uc003mcm.1	-	1	478	c.302A>G	c.(301-303)GAC>GGC	p.D101G	NKX2-5_uc011dfe.1_Missense_Mutation_p.D101G|NKX2-5_uc010jjt.1_Missense_Mutation_p.D101G	NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	101	Ala/Pro-rich.				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTTGGCTGGGTCGGGGTCGCT	0.657												
CPEB4	80315	broad.mit.edu	37	5	173378896	173378896	+	Nonsense_Mutation	SNP	C	C	T	rs142267358		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:173378896C>T	uc003mcs.3	+	8	3141	c.1735C>T	c.(1735-1737)CGA>TGA	p.R579*	CPEB4_uc010jju.1_Nonsense_Mutation_p.R554*|CPEB4_uc010jjv.2_Nonsense_Mutation_p.R562*|CPEB4_uc011dfg.1_Nonsense_Mutation_p.R554*|CPEB4_uc003mct.3_Nonsense_Mutation_p.R189*|CPEB4_uc003mcu.3_Nonsense_Mutation_p.R172*	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	579							nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACTTGACCCACGAAAAACTAT	0.423												
RNF44	22838	broad.mit.edu	37	5	175959073	175959073	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:175959073C>T	uc003mek.1	-	3	754	c.229G>A	c.(229-231)GGC>AGC	p.G77S	RNF44_uc011dfo.1_5'UTR|RNF44_uc003mel.1_5'Flank	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	ring finger protein 44	77	Pro-rich.						zinc ion binding				0	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCTCCCGCCGGCAGGAGCC	0.711												
FGFR4	2264	broad.mit.edu	37	5	176520461	176520461	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:176520461G>A	uc003mfl.2	+	10	1473	c.1306G>A	c.(1306-1308)GTG>ATG	p.V436M	FGFR4_uc003mfm.2_Missense_Mutation_p.V436M|FGFR4_uc011dfu.1_Silent_p.A384A|FGFR4_uc003mfo.2_Missense_Mutation_p.V396M	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	436	Cytoplasmic (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GGTACGAGGCGTGCGTCTCTC	0.622										TSP Lung(9;0.080)		
GRK6	2870	broad.mit.edu	37	5	176857878	176857878	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:176857878G>A	uc011dfz.1	+	2	218	c.58G>A	c.(58-60)GGT>AGT	p.G20S	GRK6_uc003mgp.2_Missense_Mutation_p.G20S|GRK6_uc003mgq.2_Missense_Mutation_p.G20S|GRK6_uc003mgs.1_5'Flank	NM_002082	NP_002073	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6 isoform B	20	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)|stomach(1)|breast(1)	3	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACAGGTGGCGGTGGAAATCG	0.612												
PDLIM7	9260	broad.mit.edu	37	5	176915118	176915118	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:176915118T>C	uc003mhc.1	-	10	1086	c.1001A>G	c.(1000-1002)GAC>GGC	p.D334G	PDLIM7_uc003mha.1_Missense_Mutation_p.D228G|PDLIM7_uc003mhb.1_Missense_Mutation_p.D300G|PDLIM7_uc003mhd.1_Missense_Mutation_p.D186G|PDLIM7_uc003mhe.1_RNA|PDLIM7_uc003mhf.2_3'UTR	NM_005451	NP_005442	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 isoform 1	334	LIM zinc-binding 1.				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)	1	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATAGCGCACGTCATAGCATGG	0.587												
B4GALT7	11285	broad.mit.edu	37	5	177034445	177034445	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:177034445G>A	uc003mhy.2	+	3	596	c.556G>A	c.(556-558)GCC>ACC	p.A186T	B4GALT7_uc003mhz.2_Missense_Mutation_p.A72T	NM_007255	NP_009186	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase 7	186	Lumenal (Potential).		A -> D (in EDSP).		fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			pancreas(1)	1	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCCACGTGGCCTCCCCGGA	0.622											OREG0017092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CLK4	57396	broad.mit.edu	37	5	178045622	178045622	+	Missense_Mutation	SNP	G	G	A	rs142631847		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:178045622G>A	uc003mjf.1	-	3	427	c.319C>T	c.(319-321)CGC>TGC	p.R107C	CLK4_uc003mjg.1_Missense_Mutation_p.R71C|CLK4_uc010jku.1_5'UTR|CLK4_uc003mjh.1_5'UTR|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Missense_Mutation_p.R107C|CLK4_uc011dgh.1_5'UTR|CLK4_uc011dgi.1_Missense_Mutation_p.R107C|CLK4_uc011dgj.1_Missense_Mutation_p.R107C|CLK4_uc003mji.2_Missense_Mutation_p.R107C	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	107						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(1)	1	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		CTCCTGCTGCGGACTGAAGAT	0.423												
GRM6	2916	broad.mit.edu	37	5	178416065	178416065	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:178416065A>G	uc003mjr.2	-	6	1404	c.1225T>C	c.(1225-1227)TAC>CAC	p.Y409H	GRM6_uc010jla.1_Intron|GRM6_uc003mjs.1_Missense_Mutation_p.Y29H	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	409	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCAATGGCGTACACCGCATCA	0.632												
ADAMTS2	9509	broad.mit.edu	37	5	178585754	178585754	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:178585754G>A	uc003mjw.2	-	6	1102	c.1102C>T	c.(1102-1104)CGG>TGG	p.R368W	ADAMTS2_uc011dgm.1_Missense_Mutation_p.R368W	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	368	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AAGTCCTGCCGTGTGAGGAAG	0.627												
MGAT4B	11282	broad.mit.edu	37	5	179226267	179226267	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:179226267T>C	uc003mks.2	-	10	1454	c.1085A>G	c.(1084-1086)AAA>AGA	p.K362R	MGAT4B_uc003mkp.2_Missense_Mutation_p.K216R|MGAT4B_uc003mkq.2_Intron|MGAT4B_uc003mkr.2_Missense_Mutation_p.K377R|MIR1229_hsa-mir-1229|MI0006319_5'Flank	NM_014275	NP_055090	Q9UQ53	MGT4B_HUMAN	alpha-1,3-mannosyl-glycoprotein	362	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding				0	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGGACGGTTTGAAGCGGAT	0.627												
RASGEF1C	255426	broad.mit.edu	37	5	179555581	179555581	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:179555581T>C	uc003mlq.2	-	4	765	c.468A>G	c.(466-468)CTA>CTG	p.L156L	RASGEF1C_uc003mlr.2_Silent_p.L156L|RASGEF1C_uc003mlp.3_Silent_p.L5L	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	156	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGAGCCTGTAGGAGCTGAT	0.602												
RASGEF1C	255426	broad.mit.edu	37	5	179555592	179555592	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:179555592G>A	uc003mlq.2	-	4	754	c.457C>T	c.(457-459)CAT>TAT	p.H153Y	RASGEF1C_uc003mlr.2_Missense_Mutation_p.H153Y|RASGEF1C_uc003mlp.3_Missense_Mutation_p.H2Y	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	153	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAGCTGATGCATCCTCTTC	0.607												
GFPT2	9945	broad.mit.edu	37	5	179731781	179731781	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:179731781C>T	uc003mlw.1	-	17	1931	c.1833G>A	c.(1831-1833)ACG>ACA	p.T611T		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	611	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)|skin(1)	2	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCTGGCGGGCCGTGACTTGCT	0.587												
FLT4	2324	broad.mit.edu	37	5	180048800	180048800	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:180048800G>T	uc003mma.3	-	13	1841	c.1762C>A	c.(1762-1764)CTG>ATG	p.L588M	FLT4_uc003mlz.3_Missense_Mutation_p.L588M|FLT4_uc003mmb.1_Missense_Mutation_p.L121M|FLT4_uc011dgy.1_Missense_Mutation_p.L588M	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	588	Ig-like C2-type 6.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TACCAGCGCAGATGCTCGTAC	0.627									Congenital_Hereditary_Lymphedema			
IRF4	3662	broad.mit.edu	37	6	394868	394868	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:394868G>A	uc003msz.3	+	3	377	c.264G>A	c.(262-264)CCG>CCA	p.P88P	IRF4_uc010jne.1_Silent_p.P88P|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.P88P|IRF4_uc003mtc.1_5'Flank	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	88	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		TCGACAAGCCGGACCCTCCCA	0.512			T	IGH@	MM 							
EXOC2	55770	broad.mit.edu	37	6	637811	637811	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:637811C>T	uc003mtd.2	-	2	142	c.8G>A	c.(7-9)CGA>CAA	p.R3Q	EXOC2_uc003mte.2_Missense_Mutation_p.R3Q|EXOC2_uc011dho.1_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	3					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTGTCGTGATCGAGACATTGT	0.473												
GMDS	2762	broad.mit.edu	37	6	1726689	1726689	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:1726689G>A	uc003mtq.2	-	9	1138	c.948C>T	c.(946-948)CAC>CAT	p.H316H		NM_001500	NP_001491	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	316					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity			central_nervous_system(1)	1	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		CCACAGTCACGTGAACTTTGC	0.507												
TUBB2A	7280	broad.mit.edu	37	6	3157684	3157684	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:3157684A>G	uc003mvc.2	-	1	100	c.14T>C	c.(13-15)GTG>GCG	p.V5A	TUBB2A_uc003mvb.2_5'Flank|TUBB2A_uc003mvd.2_Missense_Mutation_p.V5A	NM_001069	NP_001060	Q13885	TBB2A_HUMAN	tubulin, beta 2	5					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			skin(1)	1	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CTGGATGTGCACGATCTCGCG	0.647												
PRPF4B	8899	broad.mit.edu	37	6	4041057	4041057	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:4041057C>T	uc003mvv.2	+	4	1555	c.1464C>T	c.(1462-1464)CGC>CGT	p.R488R	PRPF4B_uc003mvw.2_RNA|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	488	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CTCGATCACGCGGTGGTCGTA	0.418												
FARS2	10667	broad.mit.edu	37	6	5404868	5404868	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:5404868G>A	uc010jnv.1	+	3	1042	c.706G>A	c.(706-708)GTG>ATG	p.V236M	FARS2_uc003mwr.2_Missense_Mutation_p.V236M|FARS2_uc003mws.1_Missense_Mutation_p.V236M	NM_006567	NP_006558	O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2 precursor	236					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CATGGAGGCCGTGAAGCTTGT	0.398												
F13A1	2162	broad.mit.edu	37	6	6225036	6225036	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:6225036A>G	uc003mwv.2	-	7	979	c.856T>C	c.(856-858)TAT>CAT	p.Y286H	F13A1_uc011dib.1_Missense_Mutation_p.Y223H	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	286					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGGACGCCATAGGCATAGATA	0.493												
DSP	1832	broad.mit.edu	37	6	7579924	7579924	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:7579924G>T	uc003mxp.1	+	23	3780	c.3501G>T	c.(3499-3501)AAG>AAT	p.K1167N	DSP_uc003mxq.1_Missense_Mutation_p.K1167N	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1167	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCAAGGAGAAGGAGTACGAGA	0.433												
TFAP2A	7020	broad.mit.edu	37	6	10398771	10398771	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:10398771A>G	uc003myr.2	-	7	1445	c.1193T>C	c.(1192-1194)CTG>CCG	p.L398P	TFAP2A_uc003myq.2_Missense_Mutation_p.L392P|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_3'UTR|TFAP2A_uc003myt.2_Missense_Mutation_p.L394P	NM_003220	NP_003211	P05549	AP2A_HUMAN	transcription factor AP-2 alpha isoform a	398	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				ATAGTTCTGCAGGGCCGTGAC	0.597												
HIVEP1	3096	broad.mit.edu	37	6	12015864	12015864	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:12015864G>A	uc003nac.2	+	2	182	c.3G>A	c.(1-3)ATG>ATA	p.M1I		NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAAAGAAGATGCCTCGAACTA	0.363												
HIVEP1	3096	broad.mit.edu	37	6	12124064	12124064	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:12124064A>G	uc003nac.2	+	4	4215	c.4036A>G	c.(4036-4038)ATG>GTG	p.M1346V	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1346					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CGAGTTTCTTATGATTCCAGC	0.428												
JARID2	3720	broad.mit.edu	37	6	15512511	15512511	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:15512511G>A	uc003nbj.2	+	14	3269	c.3025G>A	c.(3025-3027)GTC>ATC	p.V1009I	JARID2_uc011div.1_Missense_Mutation_p.V837I	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	1009	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CCAGTTTGTCGTCTGCTTCCC	0.582												
RBM24	221662	broad.mit.edu	37	6	17292068	17292068	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:17292068C>T	uc003nbz.3	+	4	433	c.429C>T	c.(427-429)GCC>GCT	p.A143A	RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Silent_p.A85A|RBM24_uc003nca.2_Silent_p.A98A|RBM24_uc011diy.1_Missense_Mutation_p.P57L|RBM24_uc011diz.1_Missense_Mutation_p.P42L	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24 isoform 1	143	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			ovary(1)|skin(1)	2	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CAGCAGCTGCCGCCTCCACCA	0.458												
RBM24	221662	broad.mit.edu	37	6	17292143	17292143	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:17292143C>T	uc003nbz.3	+	4	508	c.504C>T	c.(502-504)GCC>GCT	p.A168A	RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Silent_p.A110A|RBM24_uc003nca.2_Silent_p.A123A|RBM24_uc011diy.1_Missense_Mutation_p.P82L|RBM24_uc011diz.1_Missense_Mutation_p.P67L	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24 isoform 1	168	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			ovary(1)|skin(1)	2	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			ctgctgccgccgccgctgctg	0.483												
FAM8A1	51439	broad.mit.edu	37	6	17601001	17601001	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:17601001C>T	uc003ncc.2	+	1	484	c.361C>T	c.(361-363)CTG>TTG	p.L121L		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	121						integral to membrane					0	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GCACGAGTGGCTGTGGCAGTC	0.721												
FAM8A1	51439	broad.mit.edu	37	6	17602852	17602852	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:17602852C>T	uc003ncc.2	+	2	867	c.744C>T	c.(742-744)CAC>CAT	p.H248H		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	248	RDD.					integral to membrane					0	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			CCTTGGCCCACAGATTTATGG	0.353												
ALDH5A1	7915	broad.mit.edu	37	6	24533872	24533872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:24533872C>T	uc003neg.2	+	10	1568	c.1540C>T	c.(1540-1542)CGA>TGA	p.R514*	ALDH5A1_uc003nef.2_Nonsense_Mutation_p.R527*	NM_001080	NP_001071	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5A1 isoform 2 precursor	514					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity				0					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CGGCCTTGGGCGAGAGGGGTC	0.483												
LRRC16A	55604	broad.mit.edu	37	6	25529097	25529097	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:25529097T>C	uc011djw.1	+	24	2419	c.2043T>C	c.(2041-2043)GGT>GGC	p.G681G	LRRC16A_uc010jpx.2_Silent_p.G681G|LRRC16A_uc010jpy.2_Silent_p.G681G|LRRC16A_uc003nfa.1_Silent_p.G35G	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	681					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						TGCAGCAGGGTATTGTCACCA	0.498												
HIST1H4B	8366	broad.mit.edu	37	6	26027254	26027254	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:26027254T>C	uc003nfr.2	-	1	227	c.227A>G	c.(226-228)CAC>CGC	p.H76R		NM_003544	NP_003535	P62805	H4_HUMAN	histone cluster 1, H4b	76					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2						GCGCTTGGCGTGCTCCGTGTA	0.537											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HIST1H2BC	8347	broad.mit.edu	37	6	26123766	26123766	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:26123766T>C	uc003ngk.3	-	1	389	c.367A>G	c.(367-369)ACC>GCC	p.T123A	HIST1H2BC_uc003ngl.2_Missense_Mutation_p.T123A|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	histone cluster 1, H2bc	123					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1						TTGGAGCTGGTGTACTTGGTG	0.572												
HIST1H2BC	8347	broad.mit.edu	37	6	26123773	26123773	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:26123773G>A	uc003ngk.3	-	1	382	c.360C>T	c.(358-360)ACC>ACT	p.T120T	HIST1H2BC_uc003ngl.2_Silent_p.T120T|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	histone cluster 1, H2bc	120					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1						TGGTGTACTTGGTGACGGCCT	0.572												
HIST1H2AD	3013	broad.mit.edu	37	6	26199429	26199429	+	Missense_Mutation	SNP	C	C	T	rs146180063		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:26199429C>T	uc003ngw.2	-	1	43	c.43G>A	c.(43-45)GCT>ACT	p.A15T	HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank	NM_021065	NP_066409	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	15					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.196)				CGGGTCTTAGCCTTAGCTCGG	0.557												
HIST1H3G	8355	broad.mit.edu	37	6	26271325	26271325	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:26271325G>T	uc003nhi.2	-	1	288	c.288C>A	c.(286-288)GCC>GCA	p.A96A	uc003nhj.2_5'Flank|HIST1H2BI_uc003nhk.2_5'Flank	NM_003534	NP_003525	P68431	H31_HUMAN	H3 histone family, member H	96					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0						AGGCCTCGCAGGCCTCCTGCA	0.572												
ZNF184	7738	broad.mit.edu	37	6	27420877	27420877	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:27420877T>C	uc003njj.2	-	5	1272	c.461A>G	c.(460-462)CAG>CGG	p.Q154R	ZNF184_uc010jqv.2_Missense_Mutation_p.Q154R|ZNF184_uc003nji.2_Missense_Mutation_p.Q154R	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTGGTTTGCCTGCTGTCTCTC	0.403												
HIST1H2BM	8342	broad.mit.edu	37	6	27782980	27782980	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:27782980C>T	uc003njo.2	+	1	159	c.159C>T	c.(157-159)ACC>ACT	p.T53T	HIST1H2AJ_uc003njn.1_5'Flank	NM_003521	NP_003512	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	53					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(1)	1						ACCCCGACACCGGCATCTCTT	0.537												
HIST1H2BM	8342	broad.mit.edu	37	6	27783176	27783176	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:27783176G>A	uc003njo.2	+	1	355	c.355G>A	c.(355-357)GTC>ATC	p.V119I	HIST1H2AJ_uc003njn.1_5'Flank	NM_003521	NP_003512	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	119					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(1)	1						CACCAAGGCCGTCACCAAGTA	0.607												
HIST1H4K	8362	broad.mit.edu	37	6	27799300	27799300	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:27799300A>G	uc003njr.2	-	1	6	c.6T>C	c.(4-6)TCT>TCC	p.S2S		NM_003541	NP_003532	P62805	H4_HUMAN	histone cluster 1, H4k	2					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0						TGCCGCGGCCAGACATGACGA	0.597												
ZSCAN16	80345	broad.mit.edu	37	6	28097507	28097507	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:28097507C>T	uc003nkm.2	+	4	926	c.826C>T	c.(826-828)CGC>TGC	p.R276C	uc010jqw.1_Intron|uc003nkk.1_Intron|uc003nkl.1_Intron	NM_025231	NP_079507	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	276	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1						CTTCATTCAGCGCTCACATCT	0.433												
ZKSCAN4	387032	broad.mit.edu	37	6	28214760	28214760	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:28214760G>T	uc003nks.1	-	4	1009	c.765C>A	c.(763-765)AGC>AGA	p.S255R	ZKSCAN4_uc011dlb.1_Missense_Mutation_p.S100R	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	255	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GGGAGACCAGGCTGCTATGGT	0.468												
ZKSCAN3	80317	broad.mit.edu	37	6	28327560	28327560	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:28327560G>A	uc003nle.3	+	2	413	c.197G>A	c.(196-198)CGG>CAG	p.R66Q	ZKSCAN3_uc010jrc.2_Missense_Mutation_p.R66Q|ZKSCAN3_uc003nlf.3_Intron	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	66	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						GCGCTGAGTCGGCTCCGAGAG	0.662												
SCAND3	114821	broad.mit.edu	37	6	28543226	28543226	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:28543226T>C	uc003nlo.2	-	3	1874	c.1256A>G	c.(1255-1257)CAT>CGT	p.H419R		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	419	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TAAAAGAGCATGTGCAACTTC	0.383												
OR14J1	442191	broad.mit.edu	37	6	29274602	29274602	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:29274602A>G	uc011dln.1	+	1	136	c.136A>G	c.(136-138)ATC>GTC	p.I46V		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	46	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CATTATCACCATCATTACCGT	0.473												
HLA-F	3134	broad.mit.edu	37	6	29691536	29691536	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:29691536C>T	uc010jrl.2	+	2	290	c.166C>T	c.(166-168)CGG>TGG	p.R56W	HLA-F_uc003nnm.3_Missense_Mutation_p.R56W|HLA-F_uc003nno.3_Missense_Mutation_p.R56W|HLA-F_uc011dlx.1_Missense_Mutation_p.R56W|HLA-F_uc011dly.1_RNA	NM_018950	NP_061823	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	56	Alpha-1.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						GCAATTCCTGCGGTTCGACAG	0.662												
TRIM26	7726	broad.mit.edu	37	6	30154113	30154113	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:30154113T>C	uc003npr.2	-	9	1369	c.1160A>G	c.(1159-1161)GAT>GGT	p.D387G	TRIM26_uc003nps.2_Missense_Mutation_p.D387G|TRIM26_uc010jry.2_Missense_Mutation_p.D117G|TRIM26_uc003npt.2_Missense_Mutation_p.D387G	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	387	B30.2/SPRY.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3						ttcctcctcatccccctcttc	0.418												
GNL1	2794	broad.mit.edu	37	6	30514078	30514078	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:30514078G>A	uc003nqh.2	-	12	2623	c.1595C>T	c.(1594-1596)TCC>TTC	p.S532F	GNL1_uc011dmi.1_Missense_Mutation_p.S329F|GNL1_uc011dmj.1_Missense_Mutation_p.S530F|GNL1_uc011dmk.1_Missense_Mutation_p.S187F	NM_005275	NP_005266	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	532					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			ovary(3)	3						CTCTGGATGGGACTCCCAGGT	0.413												
KIAA1949	170954	broad.mit.edu	37	6	30653469	30653469	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:30653469T>C	uc003nra.2	-	2	558	c.327A>G	c.(325-327)CTA>CTG	p.L109L	KIAA1949_uc003nrb.3_Silent_p.L109L	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN	phostensin	109						cytoplasm|cytoskeleton	actin binding				0						TTCTCTCTGCTAGCAGCTCTT	0.522												
BAT2	7916	broad.mit.edu	37	6	31593589	31593589	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:31593589G>A	uc003nvb.3	+	8	1029	c.780G>A	c.(778-780)CCG>CCA	p.P260P	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Silent_p.P260P|BAT2_uc003nve.2_3'UTR	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	260	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						CATATCTCCCGTTCCCTCCGC	0.567												
BAT2	7916	broad.mit.edu	37	6	31600180	31600180	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:31600180C>T	uc003nvb.3	+	16	3979	c.3730C>T	c.(3730-3732)CGA>TGA	p.R1244*	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Nonsense_Mutation_p.R1244*	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1244	Poly-Arg.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						CCGAAGGAGGCGACATGGGAG	0.632												
VARS	7407	broad.mit.edu	37	6	31745394	31745394	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:31745394C>A	uc003nxe.2	-	30	4195	c.3772G>T	c.(3772-3774)GCC>TCC	p.A1258S	C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1258					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	TGGAATAGGGCGATGGCCTCA	0.562												
HSPA1L	3305	broad.mit.edu	37	6	31777884	31777884	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:31777884G>A	uc003nxh.2	-	2	2049	c.1866C>T	c.(1864-1866)TGC>TGT	p.C622C	HSPA1L_uc010jte.2_Silent_p.C622C	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	622					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						ACCCTGTTCCGCAGGCAGGCC	0.463												
HSPA1A	3303	broad.mit.edu	37	6	31783543	31783543	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:31783543G>T	uc003nxj.2	+	1	253	c.10G>T	c.(10-12)GCC>TCC	p.A4S	HSPA1L_uc003nxh.2_5'Flank|HSPA1L_uc010jte.2_5'Flank|HSPA1A_uc011doj.1_Missense_Mutation_p.A4S|HSPA1A_uc003nxi.1_Missense_Mutation_p.A4S|uc011dok.1_RNA	NM_005345	NP_005336	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	4					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			ovary(1)	1						CATGGCCAAAGCCGCGGCGAT	0.642												
NOTCH4	4855	broad.mit.edu	37	6	32187376	32187376	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:32187376G>A	uc003obb.2	-	8	1642	c.1503C>T	c.(1501-1503)TGC>TGT	p.C501C	NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Silent_p.C501C	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	501	EGF-like 12; calcium-binding (Potential).|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						TACCTGGCGGGCAGAGGCAGT	0.602												
HLA-DRA	3122	broad.mit.edu	37	6	32410339	32410339	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:32410339C>T	uc003obh.2	+	2	278	c.197C>T	c.(196-198)ACG>ATG	p.T66M	HLA-DRA_uc003obi.2_Missense_Mutation_p.T66M	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	66	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)|skin(1)	2						AAGAAGGAGACGGTCTGGCGG	0.468									T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of			
TAP2	6891	broad.mit.edu	37	6	32803064	32803064	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:32803064A>C	uc003occ.2	-	4	843	c.812T>G	c.(811-813)CTC>CGC	p.L271R	TAP2_uc011dqf.1_Missense_Mutation_p.L271R|TAP2_uc003ocb.1_Missense_Mutation_p.L271R|TAP2_uc003ocd.2_Missense_Mutation_p.L271R	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	271	ABC transmembrane type-1.|Helical; Name=6; (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						GCTTCGCAAGAGCACATTGGC	0.522												
RING1	6015	broad.mit.edu	37	6	33179049	33179049	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:33179049C>T	uc003odk.2	+	5	764	c.570C>T	c.(568-570)TCC>TCT	p.S190S	RING1_uc011dqx.1_Silent_p.S190S|RING1_uc003odl.2_Silent_p.S161S	NM_002931	NP_002922	Q06587	RING1_HUMAN	ring finger protein 1	190	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GCTCAGACTCCGCCCCTGACT	0.687												
VPS52	6293	broad.mit.edu	37	6	33232675	33232675	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:33232675T>G	uc003odm.1	-	13	1494	c.1284A>C	c.(1282-1284)AAA>AAC	p.K428N	VPS52_uc003odn.1_Missense_Mutation_p.K239N	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	428					protein transport	endosome membrane|Golgi apparatus				ovary(4)|skin(1)	5						AATCCAGGTGTTTCTGTGTGA	0.428												
TAPBP	6892	broad.mit.edu	37	6	33281127	33281127	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:33281127C>T	uc003odx.1	-	3	507	c.336G>A	c.(334-336)GCG>GCA	p.A112A	TAPBP_uc010jus.1_Silent_p.A112A|TAPBP_uc003ody.2_Silent_p.A112A|TAPBP_uc003odz.2_Silent_p.A112A|TAPBP_uc010jut.1_Intron|TAPBP_uc011drc.1_Silent_p.A112A	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	112	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			ovary(1)	1						GGCAGTTCTGCGCGGGGGTCA	0.692												
SYNGAP1	8831	broad.mit.edu	37	6	33393628	33393628	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:33393628G>A	uc011dri.1	+	3	438	c.243G>A	c.(241-243)CTG>CTA	p.L81L	SYNGAP1_uc003oeo.1_Silent_p.L66L|SYNGAP1_uc010juy.2_Silent_p.L66L	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	81					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						GCAACAAACTGCTGAGACGCA	0.697												
SYNGAP1	8831	broad.mit.edu	37	6	33405813	33405813	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:33405813G>T	uc011dri.1	+	8	1326	c.1131G>T	c.(1129-1131)ATG>ATT	p.M377I	SYNGAP1_uc003oeo.1_Missense_Mutation_p.M362I|SYNGAP1_uc010juy.2_Missense_Mutation_p.M362I|SYNGAP1_uc010juz.2_Missense_Mutation_p.M89I	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	377					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						CTGGGGGCATGGGTTCGGGAG	0.662												
SYNGAP1	8831	broad.mit.edu	37	6	33411374	33411374	+	Silent	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:33411374T>G	uc011dri.1	+	15	3240	c.3045T>G	c.(3043-3045)ACT>ACG	p.T1015T	SYNGAP1_uc010juy.2_Silent_p.T986T|SYNGAP1_uc010juz.2_Silent_p.T727T	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1015					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						CCTCTGGCACTGACTTCACCC	0.607												
GRM4	2914	broad.mit.edu	37	6	34003743	34003743	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:34003743C>G	uc003oir.3	-	8	2314	c.2144G>C	c.(2143-2145)TGT>TCT	p.C715S	GRM4_uc011dsn.1_Missense_Mutation_p.C668S|GRM4_uc010jvh.2_Missense_Mutation_p.C715S|GRM4_uc010jvi.2_Missense_Mutation_p.C407S|GRM4_uc003oio.2_Missense_Mutation_p.C407S|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.C575S|GRM4_uc003oiq.2_Missense_Mutation_p.C582S|GRM4_uc011dsm.1_Missense_Mutation_p.C546S	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	715	Helical; Name=4; (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	AAACCACACACAGATGCCCAG	0.642												
GRM4	2914	broad.mit.edu	37	6	34004131	34004131	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:34004131G>A	uc003oir.3	-	8	1926	c.1756C>T	c.(1756-1758)CCC>TCC	p.P586S	GRM4_uc011dsn.1_Missense_Mutation_p.P539S|GRM4_uc010jvh.2_Missense_Mutation_p.P586S|GRM4_uc010jvi.2_Missense_Mutation_p.P278S|GRM4_uc003oio.2_Missense_Mutation_p.P278S|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.P446S|GRM4_uc003oiq.2_Missense_Mutation_p.P453S|GRM4_uc011dsm.1_Missense_Mutation_p.P417S	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	586	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	ACGGCCCAGGGCGAGCCCCAC	0.632												
DEF6	50619	broad.mit.edu	37	6	35288973	35288973	+	Missense_Mutation	SNP	C	C	T	rs149576757		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:35288973C>T	uc003okk.2	+	11	1721	c.1682C>T	c.(1681-1683)CCG>CTG	p.P561L	DEF6_uc010jvs.2_Missense_Mutation_p.P536L|DEF6_uc010jvt.2_Missense_Mutation_p.P306L	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog	561						cytoplasm|nucleus|plasma membrane					0						GATAAGCGTCCGGTCACCAGC	0.632												
PPARD	5467	broad.mit.edu	37	6	35393806	35393806	+	Missense_Mutation	SNP	G	G	A	rs139791337		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:35393806G>A	uc003okm.2	+	8	1585	c.1276G>A	c.(1276-1278)GAG>AAG	p.E426K	PPARD_uc003okn.2_Missense_Mutation_p.E426K|PPARD_uc011dtb.1_Missense_Mutation_p.E387K|PPARD_uc011dtc.1_Missense_Mutation_p.E328K	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	426	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GACCGAAACCGAGACCTCGCT	0.607												
C6orf222	389384	broad.mit.edu	37	6	36298298	36298298	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:36298298C>T	uc003oly.2	-	2	348	c.170G>A	c.(169-171)AGA>AAA	p.R57K		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	57										skin(2)|ovary(1)|breast(1)	4						GTCTGAATGTCTGGCCCAATC	0.652												
SFRS3	6428	broad.mit.edu	37	6	36569517	36569517	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:36569517C>T	uc003omj.2	+	5	584	c.413C>T	c.(412-414)TCG>TTG	p.S138L	SFRS3_uc003omk.2_RNA	NM_003017	NP_003008	P84103	SRSF3_HUMAN	splicing factor, arginine/serine-rich 3	138	2 X approximate repeats, basic.|Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0						AGAGAGAGATCGCTGTCTCGG	0.368			T	BCL6	follicular lymphoma							
FGD2	221472	broad.mit.edu	37	6	36982426	36982426	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:36982426C>A	uc010jwp.1	+	7	999	c.828C>A	c.(826-828)GCC>GCA	p.A276A	FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Silent_p.A82A	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	276	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			upper_aerodigestive_tract(1)|lung(1)|pancreas(1)	3						TTTCAGAAGCCCTGGACATGA	0.602												
TBC1D22B	55633	broad.mit.edu	37	6	37237385	37237385	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:37237385T>C	uc003onn.2	+	2	218	c.72T>C	c.(70-72)TAT>TAC	p.Y24Y	TBC1D22B_uc010jwt.2_RNA	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	24						intracellular	Rab GTPase activator activity				0			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AGCCTGTATATGGAGCACAGC	0.398												
FTSJD2	23070	broad.mit.edu	37	6	37403507	37403507	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:37403507A>G	uc003ons.2	+	2	355	c.102A>G	c.(100-102)GAA>GAG	p.E34E	FTSJD2_uc010jwu.2_Silent_p.E34E	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	34					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						CCGATGATGAACCTCCCTCCT	0.507												
FTSJD2	23070	broad.mit.edu	37	6	37418080	37418080	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:37418080T>C	uc003ons.2	+	5	751	c.498T>C	c.(496-498)CCT>CCC	p.P166P	FTSJD2_uc010jwu.2_Silent_p.P166P	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	166					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						CTGAAATTCCTGACACTCAGG	0.468												
DNAH8	1769	broad.mit.edu	37	6	38704868	38704868	+	Missense_Mutation	SNP	C	C	T	rs145115573	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:38704868C>T	uc003ooe.1	+	4	737	c.137C>T	c.(136-138)GCG>GTG	p.A46V		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GTTCTGGATGCGTCGAAAGGA	0.378												
USP49	25862	broad.mit.edu	37	6	41773522	41773522	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:41773522C>T	uc003ori.2	-	4	1422	c.1200G>A	c.(1198-1200)GCG>GCA	p.A400A		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	400					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAAATTCCTGCGCGTCCTGTT	0.617												
TRERF1	55809	broad.mit.edu	37	6	42211008	42211008	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:42211008G>A	uc003osd.2	-	15	3400	c.2837C>T	c.(2836-2838)GCA>GTA	p.A946V	TRERF1_uc011duq.1_Missense_Mutation_p.A863V|TRERF1_uc003osb.2_Missense_Mutation_p.A702V|TRERF1_uc003osc.2_Missense_Mutation_p.A702V|TRERF1_uc003ose.2_Missense_Mutation_p.A966V	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	946	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GATGATTTCTGCCAGGCGTGT	0.557												
TRERF1	55809	broad.mit.edu	37	6	42235905	42235905	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:42235905G>A	uc003osd.2	-	5	1987	c.1424C>T	c.(1423-1425)GCC>GTC	p.A475V	TRERF1_uc011duq.1_Missense_Mutation_p.A475V|TRERF1_uc003osb.2_Missense_Mutation_p.A314V|TRERF1_uc003osc.2_Missense_Mutation_p.A314V|TRERF1_uc003ose.2_Missense_Mutation_p.A475V	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	475	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGGCCACATGGCACTGGGAGA	0.597												
KIAA0240	23506	broad.mit.edu	37	6	42832398	42832398	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:42832398G>T	uc003osn.1	+	13	2605	c.2454G>T	c.(2452-2454)GAG>GAT	p.E818D	KIAA0240_uc011duw.1_Missense_Mutation_p.E818D|KIAA0240_uc003osp.1_Missense_Mutation_p.E818D	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	818										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			CATTTCCAGAGGGTTTTCAGG	0.483												
PTK7	5754	broad.mit.edu	37	6	43109810	43109810	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:43109810T>C	uc003oub.1	+	12	2108	c.1910T>C	c.(1909-1911)CTG>CCG	p.L637P	PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Missense_Mutation_p.L597P|PTK7_uc003oue.1_Missense_Mutation_p.L507P|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.L645P|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	PTK7 protein tyrosine kinase 7 isoform a	637	Ig-like C2-type 7.|Extracellular (Potential).				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(2)|large_intestine(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCCACCAAGCTGGGACCCAGG	0.672												
SRF	6722	broad.mit.edu	37	6	43146121	43146121	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:43146121G>A	uc003oui.2	+	5	1727	c.1252G>A	c.(1252-1254)GCC>ACC	p.A418T	SRF_uc011dvf.1_Missense_Mutation_p.A214T	NM_003131	NP_003122	P11831	SRF_HUMAN	serum response factor (c-fos serum response	418					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			ovary(1)|breast(1)|central_nervous_system(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGTGATGTATGCCCCCACCTC	0.627												
ZNF318	24149	broad.mit.edu	37	6	43323652	43323652	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:43323652G>A	uc003oux.2	-	4	1498	c.1420C>T	c.(1420-1422)CTA>TTA	p.L474L	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	474					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTGTGGCATAGAAAACTTCCA	0.507												
CAPN11	11131	broad.mit.edu	37	6	44143881	44143881	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:44143881T>C	uc003owt.1	+	8	946	c.908T>C	c.(907-909)CTT>CCT	p.L303P	CAPN11_uc011dvn.1_5'Flank	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11	303	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTGACTGGCCTTCAGGATGTG	0.532												
CAPN11	11131	broad.mit.edu	37	6	44144341	44144341	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:44144341C>T	uc003owt.1	+	10	1063	c.1025C>T	c.(1024-1026)GCC>GTC	p.A342V	CAPN11_uc011dvn.1_5'UTR	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11	342	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAAGAGGTGGCCTCAGACATC	0.632												
CAPN11	11131	broad.mit.edu	37	6	44144696	44144696	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:44144696C>T	uc003owt.1	+	11	1236	c.1198C>T	c.(1198-1200)CGC>TGC	p.R400C	CAPN11_uc011dvn.1_Missense_Mutation_p.R54C	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11	400	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGGCAGCTGGCGCAGAGGCAG	0.632												
HSP90AB1	3326	broad.mit.edu	37	6	44218837	44218837	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:44218837G>A	uc003oxa.1	+	7	1094	c.1010G>A	c.(1009-1011)CGT>CAT	p.R337H	HSP90AB1_uc011dvr.1_Missense_Mutation_p.R327H|HSP90AB1_uc003oxb.1_Missense_Mutation_p.R337H|HSP90AB1_uc011dvs.1_Missense_Mutation_p.R157H|HSP90AB1_uc003oxc.1_5'UTR	NM_007355	NP_031381	P08238	HS90B_HUMAN	heat shock 90kDa protein 1, beta	337					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			lung(3)|breast(1)	4	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTTATTCCTCGTCGGGCTCCC	0.398												
CLIC5	53405	broad.mit.edu	37	6	45882038	45882038	+	Missense_Mutation	SNP	C	C	T	rs145681060	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:45882038C>T	uc003oxv.3	-	5	1098	c.992G>A	c.(991-993)CGG>CAG	p.R331Q	CLIC5_uc003oxu.3_Missense_Mutation_p.R172Q|CLIC5_uc003oxw.2_RNA|CLIC5_uc003oxx.2_Missense_Mutation_p.R172Q	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5 isoform a	331	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			ovary(1)|skin(1)	2						GAACTTGCGCCGGGACCCCTT	0.552												
C6orf138	442213	broad.mit.edu	37	6	47976384	47976384	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:47976384G>A	uc011dwm.1	-	2	927	c.842C>T	c.(841-843)CCG>CTG	p.P281L	C6orf138_uc011dwn.1_Missense_Mutation_p.P45L|C6orf138_uc003ozf.2_Missense_Mutation_p.P298L	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	298	Helical; (Potential).|SSD.					integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						GGCGAAGAACGGGATTCCCAG	0.493												
DEFB112	245915	broad.mit.edu	37	6	50011439	50011439	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:50011439T>C	uc011dws.1	-	2	191	c.191A>G	c.(190-192)CAA>CGA	p.Q64R		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	beta-defensin 112 precursor	64					defense response to bacterium	extracellular region				central_nervous_system(1)	1	Lung NSC(77;0.042)					ATCATCACATTGATTTTTACA	0.438												
TFAP2B	7021	broad.mit.edu	37	6	50810889	50810889	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:50810889G>A	uc003pag.2	+	7	1333	c.1167G>A	c.(1165-1167)CCG>CCA	p.P389P		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	389				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					TCCTGGAGCCGGGGATCCAGA	0.632												
ICK	22858	broad.mit.edu	37	6	52870003	52870003	+	Missense_Mutation	SNP	C	C	T	rs55932059		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:52870003C>T	uc003pbh.2	-	15	2333	c.1843G>A	c.(1843-1845)GCC>ACC	p.A615T	ICK_uc003pbi.2_Missense_Mutation_p.A615T	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	615					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)					ACTGGCTGGGCGGCTGGAGGC	0.577												
FAM83B	222584	broad.mit.edu	37	6	54735123	54735123	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:54735123T>C	uc003pck.2	+	2	195	c.79T>C	c.(79-81)TGG>CGG	p.W27R		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	27										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					CTACAAGGAATGGTATCGAGT	0.418												
COL21A1	81578	broad.mit.edu	37	6	55925815	55925815	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:55925815A>G	uc003pcs.2	-	26	2458	c.2226T>C	c.(2224-2226)CCT>CCC	p.P742P	COL21A1_uc010jzz.2_Silent_p.P127P|COL21A1_uc011dxg.1_Silent_p.P115P|COL21A1_uc011dxh.1_Silent_p.P127P|COL21A1_uc003pcr.2_Silent_p.P99P	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	742	Collagen-like 5.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTCGGACACCAGGTTCTCCCT	0.473												
COL21A1	81578	broad.mit.edu	37	6	56044553	56044553	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:56044553C>T	uc003pcs.2	-	3	695	c.463G>A	c.(463-465)GCT>ACT	p.A155T	COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.A155T|COL21A1_uc003pcu.1_Missense_Mutation_p.A155T	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	155	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCTGCTTGAGCTGCATCCTTG	0.438												
DST	667	broad.mit.edu	37	6	56330968	56330968	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:56330968A>G	uc003pdf.2	-	93	16266	c.16238T>C	c.(16237-16239)CTG>CCG	p.L5413P	DST_uc003pcz.3_Missense_Mutation_p.L5235P|DST_uc011dxj.1_Missense_Mutation_p.L5264P|DST_uc011dxk.1_Missense_Mutation_p.L5275P|DST_uc003pcy.3_Missense_Mutation_p.L4909P|DST_uc003pcv.3_5'Flank|DST_uc003pcw.3_5'UTR|DST_uc003pcx.3_5'UTR	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	7321	GAR.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GATCCGGACCAGTCGCAGTTG	0.453												
DST	667	broad.mit.edu	37	6	56400091	56400091	+	Splice_Site	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:56400091C>A	uc003pdf.2	-	57	10442	c.10414_splice	c.e57-1	p.V3472_splice	DST_uc003pcz.3_Splice_Site_p.V3294_splice|DST_uc011dxj.1_Splice_Site_p.V3323_splice|DST_uc011dxk.1_Splice_Site_p.V3334_splice|DST_uc003pcy.3_Splice_Site_p.V2968_splice	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2						cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTGAGCCACCTGCAAAGTGC	0.498												
DST	667	broad.mit.edu	37	6	56505385	56505385	+	Silent	SNP	G	G	A	rs148980773	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:56505385G>A	uc003pdf.2	-	17	1975	c.1947C>T	c.(1945-1947)GAC>GAT	p.D649D	DST_uc003pcz.3_Silent_p.D471D|DST_uc011dxj.1_Silent_p.D500D|DST_uc011dxk.1_Silent_p.D511D|DST_uc011dxl.1_Silent_p.D500D|DST_uc003pcy.3_Silent_p.D145D|DST_uc003pdb.2_Silent_p.D145D|DST_uc003pdc.3_Silent_p.D145D|DST_uc003pdd.3_Silent_p.D145D|DST_uc003pde.2_Silent_p.D587D	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	471					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCATAATTTCGTCACGCAGTT	0.328												
LMBRD1	55788	broad.mit.edu	37	6	70428963	70428963	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:70428963A>G	uc003pfa.2	-	8	762	c.647T>C	c.(646-648)ATG>ACG	p.M216T	LMBRD1_uc003pey.2_Missense_Mutation_p.M12T|LMBRD1_uc003pez.2_Missense_Mutation_p.M143T|LMBRD1_uc010kal.2_Missense_Mutation_p.M143T|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	216	Cytoplasmic (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						TAACGCAGACATGCCATAGGC	0.303												
FAM135A	57579	broad.mit.edu	37	6	71185436	71185436	+	Missense_Mutation	SNP	C	C	T	rs149122763		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:71185436C>T	uc003pfj.2	+	5	501	c.368C>T	c.(367-369)TCG>TTG	p.S123L	FAM135A_uc003pfi.2_Missense_Mutation_p.S123L|FAM135A_uc003pfh.2_Missense_Mutation_p.S80L|FAM135A_uc003pfk.2_Missense_Mutation_p.S123L|FAM135A_uc003pfl.2_Missense_Mutation_p.L5F	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	123										central_nervous_system(1)	1						GGAGATTATTCGTAAGTAGCT	0.308												
C6orf150	115004	broad.mit.edu	37	6	74138519	74138519	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:74138519A>G	uc003pgx.1	-	4	1269	c.1130T>C	c.(1129-1131)CTA>CCA	p.L377P		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	hypothetical protein LOC115004	377											0						AGAGAAGGATAGCCGCCATGT	0.338												
SENP6	26054	broad.mit.edu	37	6	76405543	76405543	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:76405543A>G	uc003pid.3	+	17	2718	c.2099A>G	c.(2098-2100)AAG>AGG	p.K700R	SENP6_uc003pie.3_Missense_Mutation_p.K693R|SENP6_uc010kbf.2_RNA	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6 isoform 1	700	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6		all_hematologic(105;0.189)				GAAAAACTGAAGAAGGAAGAC	0.264												
MYO6	4646	broad.mit.edu	37	6	76618318	76618318	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:76618318G>A	uc003pih.1	+	32	3665	c.3386G>A	c.(3385-3387)CGT>CAT	p.R1129H	MYO6_uc003pii.1_Missense_Mutation_p.R1106H|MYO6_uc003pij.1_Missense_Mutation_p.R86H	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1138					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ACAGAGCAACGTGCTCCAAAG	0.348												
DOPEY1	23033	broad.mit.edu	37	6	83839938	83839938	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:83839938T>C	uc003pjs.1	+	17	2698	c.2438T>C	c.(2437-2439)CTA>CCA	p.L813P	DOPEY1_uc011dyy.1_Missense_Mutation_p.L804P|DOPEY1_uc010kbl.1_Missense_Mutation_p.L804P	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	813					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCTATTTCACTAGTTATGGAC	0.502												
DOPEY1	23033	broad.mit.edu	37	6	83839961	83839961	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:83839961A>G	uc003pjs.1	+	17	2721	c.2461A>G	c.(2461-2463)ACA>GCA	p.T821A	DOPEY1_uc011dyy.1_Missense_Mutation_p.T812A|DOPEY1_uc010kbl.1_Missense_Mutation_p.T812A	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	821					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGTGGGACTGACACAGTCTGT	0.488												
CYB5R4	51167	broad.mit.edu	37	6	84603290	84603290	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:84603290A>C	uc003pkf.2	+	3	411	c.279A>C	c.(277-279)GAA>GAC	p.E93D		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	93	Cytochrome b5 heme-binding.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(2)	2		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CTGGTGGAGAAGATGAACTAA	0.383												
KIAA1009	22832	broad.mit.edu	37	6	84895044	84895044	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:84895044C>T	uc010kbp.2	-	13	1621	c.1524G>A	c.(1522-1524)GCG>GCA	p.A508A	KIAA1009_uc003pkj.3_Silent_p.A432A|KIAA1009_uc003pkk.2_Silent_p.A508A|KIAA1009_uc003pki.3_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	508					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCCTAACTGACGCATATAATC	0.418												
ZNF292	23036	broad.mit.edu	37	6	87970368	87970368	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:87970368T>C	uc003plm.3	+	8	7062	c.7021T>C	c.(7021-7023)TTA>CTA	p.L2341L		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAAAAATAATTTAGAAAACAA	0.358												
ZNF292	23036	broad.mit.edu	37	6	87970811	87970811	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:87970811T>C	uc003plm.3	+	8	7505	c.7464T>C	c.(7462-7464)TTT>TTC	p.F2488F		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAGAATTGTTTATTACAAAAT	0.308												
C6orf162	57150	broad.mit.edu	37	6	88046852	88046852	+	Missense_Mutation	SNP	C	C	T	rs138742161		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:88046852C>T	uc003plp.1	+	3	192	c.103C>T	c.(103-105)CGT>TGT	p.R35C	C6orf164_uc003plr.2_RNA|C6orf162_uc003plq.1_Missense_Mutation_p.R35C	NM_001042493	NP_001035958	Q96KF7	CF162_HUMAN	hypothetical protein LOC57150	35						integral to membrane					0		all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0164)		AACCTTATTTCGTGCTGTGAA	0.433												
C6orf165	154313	broad.mit.edu	37	6	88173833	88173833	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:88173833T>C	uc003plv.2	+	13	1826	c.1734T>C	c.(1732-1734)ACT>ACC	p.T578T	SLC35A1_uc003plx.2_RNA|C6orf165_uc003plw.2_Silent_p.T390T|C6orf165_uc010kbv.1_RNA	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	578										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CAAAGGACACTAGCACCCAGT	0.483												
GABRR2	2570	broad.mit.edu	37	6	89978860	89978860	+	Missense_Mutation	SNP	G	G	A	rs140140640	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:89978860G>A	uc003pnb.2	-	4	465	c.457C>T	c.(457-459)CGG>TGG	p.R153W	GABRR2_uc011dzx.1_Missense_Mutation_p.R29W	NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	153	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TTCACCAGCCGGCCATCGAAG	0.517												
MDN1	23195	broad.mit.edu	37	6	90395561	90395561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:90395561G>A	uc003pnn.1	-	70	11820	c.11704C>T	c.(11704-11706)CAG>TAG	p.Q3902*		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3902					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTTCAACCTGTGGCATCAGC	0.433												
MDN1	23195	broad.mit.edu	37	6	90399785	90399785	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:90399785G>A	uc003pnn.1	-	65	10943	c.10827C>T	c.(10825-10827)GGC>GGT	p.G3609G		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3609					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTGGGTTTGTGCCTGCTTCCT	0.453												
MDN1	23195	broad.mit.edu	37	6	90438695	90438695	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:90438695C>A	uc003pnn.1	-	36	5420	c.5304G>T	c.(5302-5304)AAG>AAT	p.K1768N		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1768					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCCTGAAGCCTTTGCTAATG	0.463												
BACH2	60468	broad.mit.edu	37	6	90660304	90660304	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:90660304G>A	uc011eab.1	-	7	2330	c.1521C>T	c.(1519-1521)TGC>TGT	p.C507C	BACH2_uc003pnw.2_Silent_p.C507C|BACH2_uc010kch.2_Silent_p.C507C	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	507						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GTGAGCGAGGGCAGACTTTGA	0.657												
FHL5	9457	broad.mit.edu	37	6	97052743	97052743	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:97052743T>C	uc003pos.1	+	4	682	c.277T>C	c.(277-279)TGC>CGC	p.C93R	FHL5_uc003pot.1_Missense_Mutation_p.C93R	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	activator of cAMP-responsive element modulator	93	LIM zinc-binding 1.					nucleus	zinc ion binding			ovary(2)	2		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GTGCACGGAGTGCTATTCTAA	0.532												
C6orf168	84553	broad.mit.edu	37	6	99739596	99739596	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:99739596G>T	uc003ppj.3	-	5	1207	c.924C>A	c.(922-924)CCC>CCA	p.P308P	C6orf168_uc003ppi.3_Silent_p.P28P	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	hypothetical protein LOC84553	308										ovary(2)|central_nervous_system(1)	3		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.073)		TCAGCCGTTCGGGTCTTGTCC	0.537												
SFRS18	25957	broad.mit.edu	37	6	99849431	99849431	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:99849431A>G	uc003ppo.3	-	12	1631	c.1403T>C	c.(1402-1404)CTA>CCA	p.L468P	SFRS18_uc003ppl.2_Missense_Mutation_p.L14P|SFRS18_uc003ppp.3_Missense_Mutation_p.L468P|SFRS18_uc011eag.1_Missense_Mutation_p.L468P	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	468						nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		TGCTTCTAGTAGTGATAAACT	0.333												
BEND3	57673	broad.mit.edu	37	6	107390110	107390110	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:107390110T>C	uc003prs.2	-	5	2935	c.2285A>G	c.(2284-2286)AAC>AGC	p.N762S		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	762	BEN 4.									ovary(3)	3						CCCGGAATGGTTGTACTGCAG	0.632												
BEND3	57673	broad.mit.edu	37	6	107390608	107390608	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:107390608T>C	uc003prs.2	-	5	2437	c.1787A>G	c.(1786-1788)AAC>AGC	p.N596S		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	596	BEN 3.			N -> S (in Ref. 2; AAI31629).						ovary(3)	3						GCCGCTGCAGTTGTACTGCTT	0.627												
SCML4	256380	broad.mit.edu	37	6	108066261	108066261	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:108066261G>C	uc010kdf.2	-	5	825	c.574C>G	c.(574-576)CTG>GTG	p.L192V	SCML4_uc003prz.3_Missense_Mutation_p.L134V|SCML4_uc011eam.1_Missense_Mutation_p.L192V|SCML4_uc003psa.3_Missense_Mutation_p.L163V	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		CTTCGGCACAGCTTGGCGAGG	0.592												
MICAL1	64780	broad.mit.edu	37	6	109774467	109774467	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:109774467C>A	uc003ptj.2	-	3	824	c.570G>T	c.(568-570)AAG>AAT	p.K190N	MICAL1_uc003ptk.2_Missense_Mutation_p.K190N|MICAL1_uc010kdr.2_Missense_Mutation_p.K190N|MICAL1_uc011eaq.1_Missense_Mutation_p.K209N	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	190					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AATACTTACCCTTCCTAGGAG	0.522												
ZBTB24	9841	broad.mit.edu	37	6	109802745	109802745	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:109802745C>T	uc003ptl.1	-	2	653	c.485G>A	c.(484-486)CGG>CAG	p.R162Q	ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.R162Q|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Missense_Mutation_p.R162Q	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	162	A.T hook.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGGTCTTCCCCGTTTCCGCTT	0.413												
AKD1	221264	broad.mit.edu	37	6	109983847	109983847	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:109983847T>C	uc003ptn.2	-	6	428	c.351A>G	c.(349-351)ATA>ATG	p.I117M	AKD1_uc003ptr.3_Missense_Mutation_p.I117M|AKD1_uc003pts.1_RNA	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	117					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						AAAGTGATGGTATTTCAGTGA	0.239												
WASF1	8936	broad.mit.edu	37	6	110423373	110423373	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:110423373C>T	uc003ptv.1	-	10	1777	c.940G>A	c.(940-942)GGC>AGC	p.G314S	WASF1_uc003ptw.1_Missense_Mutation_p.G314S|WASF1_uc003ptx.1_Missense_Mutation_p.G314S|WASF1_uc003pty.1_Missense_Mutation_p.G314S	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Wiskott-Aldrich syndrome protein family member	314					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding				0		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GGTGTTCTGCCTGTAGCTGGT	0.453												
GTF3C6	112495	broad.mit.edu	37	6	111288882	111288882	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:111288882T>C	uc003pum.2	+	6	741	c.531T>C	c.(529-531)AGT>AGC	p.S177S		NM_138408	NP_612417	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide	177						transcription factor TFIIIC complex	DNA binding|protein binding				0		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		CAAACCTGAGTTGTGAACAGG	0.383												
REV3L	5980	broad.mit.edu	37	6	111697073	111697073	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:111697073G>T	uc003puy.3	-	13	2808	c.2485C>A	c.(2485-2487)CGG>AGG	p.R829R	REV3L_uc003pux.3_Silent_p.R751R|REV3L_uc003puz.3_Silent_p.R751R	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	829					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AATTTTAACCGGGATGGTTTA	0.348								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
TRAF3IP2	10758	broad.mit.edu	37	6	111884186	111884186	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:111884186G>A	uc011ebc.1	-	9	2148	c.1533C>T	c.(1531-1533)CTC>CTT	p.L511L	TRAF3IP2_uc011ebb.1_Silent_p.L55L|TRAF3IP2_uc003pvd.2_Silent_p.L103L|TRAF3IP2_uc003pvg.2_Silent_p.L510L|TRAF3IP2_uc003pvf.2_Silent_p.L511L	NM_147686	NP_679211	O43734	CIKS_HUMAN	TRAF3 interacting protein 2 isoform 2	520	SEFIR.				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				ovary(2)|central_nervous_system(1)	3		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CATTTGGGAAGAGCACAGGGA	0.348												
LAMA4	3910	broad.mit.edu	37	6	112461980	112461980	+	Silent	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:112461980T>A	uc003pvu.2	-	22	3267	c.2958A>T	c.(2956-2958)GGA>GGT	p.G986G	LAMA4_uc003pvv.2_Silent_p.G979G|LAMA4_uc003pvt.2_Silent_p.G979G	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	986	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGGAAGGCACTCCACCAACAT	0.408												
LAMA4	3910	broad.mit.edu	37	6	112461999	112461999	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:112461999G>C	uc003pvu.2	-	22	3248	c.2939C>G	c.(2938-2940)ACA>AGA	p.T980R	LAMA4_uc003pvv.2_Missense_Mutation_p.T973R|LAMA4_uc003pvt.2_Missense_Mutation_p.T973R	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	980	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATAAAACACTGTGTCCTCAGG	0.413												
LAMA4	3910	broad.mit.edu	37	6	112512907	112512907	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:112512907T>C	uc003pvu.2	-	6	958	c.649A>G	c.(649-651)ACC>GCC	p.T217A	LAMA4_uc003pvv.2_Missense_Mutation_p.T217A|LAMA4_uc003pvt.2_Missense_Mutation_p.T217A	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	217	Laminin EGF-like 3.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTGAATCCGGTGGTGTTGCGT	0.483												
MARCKS	4082	broad.mit.edu	37	6	114181628	114181628	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:114181628C>T	uc003pvy.3	+	2	1267	c.872C>T	c.(871-873)CCG>CTG	p.P291L		NM_002356	NP_002347	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C	291				PGAPPEQEAAPAEEPAAAAASS -> LVCPRRGGSPRGGAR GRRSLNQ (in Ref. 1; AAA59555).	energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding				0		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		ggcgcgcccccggAGCAGGAG	0.498												
NT5DC1	221294	broad.mit.edu	37	6	116542304	116542304	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:116542304G>A	uc003pwj.2	+	7	712	c.617G>A	c.(616-618)CGA>CAA	p.R206Q	NT5DC1_uc003pwk.2_Missense_Mutation_p.R198Q|NT5DC1_uc003pwl.2_Missense_Mutation_p.R156Q	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase, cytosolic II-like 1 protein	206							hydrolase activity|metal ion binding				0		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AAATGGCTTCGACAGCTAAAG	0.343												
DSE	29940	broad.mit.edu	37	6	116758093	116758093	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:116758093C>T	uc003pws.2	+	6	2656	c.2462C>T	c.(2461-2463)GCT>GTT	p.A821V	DSE_uc011ebg.1_Missense_Mutation_p.A840V|DSE_uc003pwt.2_Missense_Mutation_p.A821V|DSE_uc003pwu.2_Missense_Mutation_p.A488V	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	821					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTTGTGGATGCTGTCCCTGAT	0.408												
FAM26D	221301	broad.mit.edu	37	6	116879011	116879011	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:116879011C>A	uc003pxa.2	+	4	452	c.153C>A	c.(151-153)ACC>ACA	p.T51T	FAM26D_uc003pwz.2_Silent_p.T8T|FAM26D_uc010ked.2_Silent_p.T50T	NM_153036	NP_694581	Q5JW98	FA26D_HUMAN	hypothetical protein LOC221301	194	Helical; (Potential).					integral to membrane					0		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		TTTTGATCACCTTGGCAACCA	0.473												
FAM184A	79632	broad.mit.edu	37	6	119327663	119327663	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:119327663G>T	uc003pyj.2	-	7	2112	c.1764C>A	c.(1762-1764)GAC>GAA	p.D588E	FAM184A_uc003pyk.3_Missense_Mutation_p.D468E|FAM184A_uc003pyl.3_Missense_Mutation_p.D468E	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	588	Potential.									ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						CTTTAGTCAAGTCAAGCTCAT	0.403												
C6orf170	221322	broad.mit.edu	37	6	121434207	121434207	+	Splice_Site	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:121434207T>C	uc003pyo.1	-	28	3237	c.3169_splice	c.e28+1	p.L1057_splice		NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322						multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		AAAAAGGATATGAAGAGAAGA	0.303												
HSF2	3298	broad.mit.edu	37	6	122733884	122733884	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:122733884A>G	uc003pyu.2	+	3	492	c.305A>G	c.(304-306)GAC>GGC	p.D102G	HSF2_uc003pyt.3_Missense_Mutation_p.D102G|HSF2_uc003pyv.2_Missense_Mutation_p.D102G	NM_004506	NP_004497	Q03933	HSF2_HUMAN	heat shock transcription factor 2 isoform a	102	By similarity.				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		GGACAGGATGACTTGTTGGAG	0.403												
TRDN	10345	broad.mit.edu	37	6	123824907	123824907	+	Missense_Mutation	SNP	C	C	A	rs138912040	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:123824907C>A	uc003pzj.1	-	8	772	c.750G>T	c.(748-750)AAG>AAT	p.K250N	TRDN_uc003pzk.1_Missense_Mutation_p.K250N|TRDN_uc003pzl.1_Missense_Mutation_p.K250N|TRDN_uc010ken.2_Missense_Mutation_p.K250N	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	250	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)		CTTTGTCCTCCTTTTCTTTGG	0.418												
NCOA7	135112	broad.mit.edu	37	6	126242091	126242091	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:126242091C>A	uc010kes.2	+	14	2696	c.2247C>A	c.(2245-2247)ATC>ATA	p.I749I	NCOA7_uc003qae.3_Silent_p.I749I|NCOA7_uc003qah.2_Silent_p.I738I|NCOA7_uc003qai.2_Silent_p.I749I|NCOA7_uc010ket.2_Silent_p.I634I|NCOA7_uc003qak.2_Silent_p.I26I	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	749					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CATTTCAGATCATCACTGTTG	0.463												
RSPO3	84870	broad.mit.edu	37	6	127440263	127440263	+	Translation_Start_Site	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:127440263A>G	uc003qar.2	+	1	216	c.-74A>G	c.(-76--72)ATATA>ATGTA		uc003qaq.1_Intron|RSPO3_uc003qas.1_Translation_Start_Site	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	R-spondin 3 precursor							extracellular region	heparin binding				0				GBM - Glioblastoma multiforme(226;0.0555)		ACACCTACatatattttaaaa	0.443												
PTPRK	5796	broad.mit.edu	37	6	128388839	128388839	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:128388839G>A	uc003qbk.2	-	12	2349	c.1982C>T	c.(1981-1983)GCC>GTC	p.A661V	PTPRK_uc003qbj.2_Missense_Mutation_p.A661V|PTPRK_uc010kfc.2_Missense_Mutation_p.A661V|PTPRK_uc011ebu.1_Missense_Mutation_p.A661V|PTPRK_uc003qbl.1_Missense_Mutation_p.A531V|PTPRK_uc011ebv.1_Missense_Mutation_p.A661V	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	661	Extracellular (Potential).|Fibronectin type-III 4.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCCACTCATGGCATTTTGGTA	0.537												
PTPRK	5796	broad.mit.edu	37	6	128399981	128399981	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:128399981T>C	uc003qbk.2	-	11	2227	c.1860A>G	c.(1858-1860)GCA>GCG	p.A620A	PTPRK_uc003qbj.2_Silent_p.A620A|PTPRK_uc010kfc.2_Silent_p.A620A|PTPRK_uc011ebu.1_Silent_p.A620A|PTPRK_uc003qbl.1_Silent_p.A490A|PTPRK_uc011ebv.1_Silent_p.A620A	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	620	Extracellular (Potential).|Fibronectin type-III 4.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTTTGGCTTGTGCTGGTCTCA	0.299												
LAMA2	3908	broad.mit.edu	37	6	129608990	129608990	+	Splice_Site	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:129608990A>G	uc003qbn.2	+	19	2643	c.2538_splice	c.e19-2	p.R846_splice	LAMA2_uc003qbo.2_Splice_Site_p.R846_splice	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor						cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTCTTGCCTTAGGTGTGCAGA	0.483												
EPB41L2	2037	broad.mit.edu	37	6	131206353	131206353	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:131206353C>T	uc003qch.2	-	12	1898	c.1716G>A	c.(1714-1716)GGG>GGA	p.G572G	EPB41L2_uc003qce.1_5'Flank|EPB41L2_uc003qcf.1_5'Flank|EPB41L2_uc003qcg.1_Silent_p.G572G|EPB41L2_uc011eby.1_Silent_p.G572G|EPB41L2_uc003qci.2_Silent_p.G572G|EPB41L2_uc010kfk.2_Silent_p.G572G|EPB41L2_uc010kfl.1_Silent_p.G572G	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	572	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTGAAATCTCCCCAGCAGCGC	0.478											OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MED23	9439	broad.mit.edu	37	6	131912629	131912629	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:131912629A>G	uc003qcs.1	-	26	3684	c.3510T>C	c.(3508-3510)AGT>AGC	p.S1170S	MED23_uc003qcq.2_Silent_p.S1176S|MED23_uc003qcr.1_Silent_p.S25S	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1170					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TGCTGATGACACTCACAATTC	0.448												
OR2A4	79541	broad.mit.edu	37	6	132022490	132022490	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:132022490C>T	uc011ecd.1	-	1	52	c.52G>A	c.(52-54)GTT>ATT	p.V18I	ENPP3_uc003qcu.3_Intron|ENPP3_uc010kfq.2_Intron|ENPP3_uc003qcv.2_Intron	NM_030908	NP_112170	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		CTTGGGCCAACGGGAAATCCC	0.493												
CTGF	1490	broad.mit.edu	37	6	132270418	132270418	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:132270418C>T	uc003qcz.2	-	5	1242	c.1036G>A	c.(1036-1038)GGA>AGA	p.G346R		NM_001901	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor precursor	346	Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding				0	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCCATGTCTCCGTACATCTTC	0.418												
CTGF	1490	broad.mit.edu	37	6	132270441	132270441	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:132270441G>A	uc003qcz.2	-	5	1219	c.1013C>T	c.(1012-1014)TCG>TTG	p.S338L		NM_001901	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor precursor	338	Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding				0	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GTAGTACAGCGATTCAAAGAT	0.448												
TAAR5	9038	broad.mit.edu	37	6	132910558	132910558	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:132910558G>T	uc003qdk.2	-	1	320	c.268C>A	c.(268-270)CTC>ATC	p.L90I		NM_003967	NP_003958	O14804	TAAR5_HUMAN	trace amine associated receptor 5	90	Helical; Name=2; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		ATGGTGCTGAGGGGCAGCACC	0.587												
EYA4	2070	broad.mit.edu	37	6	133783831	133783831	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:133783831G>A	uc003qec.3	+	9	1111	c.653G>A	c.(652-654)GGC>GAC	p.G218D	EYA4_uc011ecq.1_Missense_Mutation_p.G164D|EYA4_uc011ecr.1_Missense_Mutation_p.G164D|EYA4_uc003qed.3_Missense_Mutation_p.G218D|EYA4_uc003qee.3_Missense_Mutation_p.G195D|EYA4_uc011ecs.1_Missense_Mutation_p.G218D|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	218					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TTACAGAGTGGCTGCCTCAGT	0.468												
TNFAIP3	7128	broad.mit.edu	37	6	138197238	138197238	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:138197238C>A	uc003qhr.2	+	5	806	c.740C>A	c.(739-741)CCC>CAC	p.P247H	TNFAIP3_uc003qhs.2_Missense_Mutation_p.P247H	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	247	TRAF-binding.|OTU.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TACAGATACCCCATTGTTCTC	0.468			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma							
HIVEP2	3097	broad.mit.edu	37	6	143093049	143093049	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:143093049G>A	uc003qjd.2	-	5	3570	c.2827C>T	c.(2827-2829)CGA>TGA	p.R943*		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	943	Nuclear localization signal (Potential).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCTGCAAGTCGCAGACGCTTC	0.572												
PHACTR2	9749	broad.mit.edu	37	6	144086872	144086872	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:144086872C>T	uc003qjq.3	+	6	1266	c.1136C>T	c.(1135-1137)CCG>CTG	p.P379L	PHACTR2_uc010khh.2_Missense_Mutation_p.P299L|PHACTR2_uc010khi.2_Missense_Mutation_p.P390L|PHACTR2_uc003qjr.3_Missense_Mutation_p.P310L	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	379							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GCTGAAGAGCCGACGAACAGA	0.498												
UTRN	7402	broad.mit.edu	37	6	144803436	144803436	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:144803436G>A	uc003qkt.2	+	26	3691	c.3599G>A	c.(3598-3600)GGC>GAC	p.G1200D		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1200	Spectrin 8.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCCTCTGGTGGCCAGGAGTTG	0.458												
SASH1	23328	broad.mit.edu	37	6	148840732	148840732	+	Silent	SNP	C	C	T	rs111245321		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:148840732C>T	uc003qme.1	+	10	1387	c.912C>T	c.(910-912)TCC>TCT	p.S304S	SASH1_uc011eeb.1_Silent_p.S65S	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	304							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ATGAACGGTCCGCCCTCTACT	0.537												
UST	10090	broad.mit.edu	37	6	149262500	149262500	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:149262500C>T	uc003qmg.2	+	3	673	c.377C>T	c.(376-378)TCG>TTG	p.S126L		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	126	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		AGAATCTTGTCGGAGAAGCAC	0.428												
PPIL4	85313	broad.mit.edu	37	6	149826728	149826728	+	Missense_Mutation	SNP	C	C	T	rs146098079		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:149826728C>T	uc003qmo.1	-	13	1370	c.1340G>A	c.(1339-1341)CGA>CAA	p.R447Q	PPIL4_uc010kic.2_Intron	NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase-like 4	447					protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		ATCCCTCTCTCGAGATCGGCT	0.408												
KATNA1	11104	broad.mit.edu	37	6	149918221	149918221	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:149918221C>T	uc003qmr.1	-	9	1300	c.1255G>A	c.(1255-1257)GCG>ACG	p.A419T	KATNA1_uc003qms.2_Missense_Mutation_p.A419T|KATNA1_uc003qmt.2_Intron	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	419					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		GTAATGTCCGCACCTGAATAA	0.363												
PCMT1	5110	broad.mit.edu	37	6	150114765	150114765	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:150114765C>T	uc003qne.2	+	5	585	c.552C>T	c.(550-552)GAC>GAT	p.D184D	PCMT1_uc003qna.2_Silent_p.D184D|PCMT1_uc003qnb.2_Silent_p.D184D|PCMT1_uc011eeg.1_Silent_p.D149D|PCMT1_uc003qnc.2_Silent_p.D63D|PCMT1_uc003qnd.2_Silent_p.D149D|PCMT1_uc003qnf.2_Silent_p.D149D	NM_005389	NP_005380			protein-L-isoaspartate (D-aspartate)											ovary(1)	1		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		TCAGGAAGGACGATCCAACAC	0.348												
PLEKHG1	57480	broad.mit.edu	37	6	151130806	151130806	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:151130806G>T	uc003qny.1	+	11	1526	c.1214G>T	c.(1213-1215)CGC>CTC	p.R405L	PLEKHG1_uc011eel.1_Missense_Mutation_p.R445L|PLEKHG1_uc011eem.1_Missense_Mutation_p.R464L|PLEKHG1_uc003qnz.2_Missense_Mutation_p.R405L	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	405	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CAAGACAAACGCCTCTGGGTT	0.473												
ZBTB2	57621	broad.mit.edu	37	6	151687417	151687417	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:151687417G>A	uc003qoh.2	-	3	919	c.784C>T	c.(784-786)CGC>TGC	p.R262C		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	262	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AGAGTGAAGCGCCGTCCACAC	0.552												
C6orf211	79624	broad.mit.edu	37	6	151775783	151775783	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:151775783G>A	uc003qok.1	+	2	401	c.142G>A	c.(142-144)GGA>AGA	p.G48R	C6orf211_uc011ees.1_Intron|RMND1_uc003qoi.2_5'Flank	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	48							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TGAGAAACACGGAGAGGTAAG	0.259												
SYNE1	23345	broad.mit.edu	37	6	152590320	152590320	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:152590320C>T	uc010kiw.2	-	99	19277	c.18675G>A	c.(18673-18675)CAG>CAA	p.Q6225Q	SYNE1_uc010kiv.2_Silent_p.Q749Q|SYNE1_uc003qos.3_Silent_p.Q749Q|SYNE1_uc003qot.3_Silent_p.Q6154Q|SYNE1_uc003qou.3_Silent_p.Q6225Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6225	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGCCGCTGCTGGGTCCATG	0.552										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152605226	152605226	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:152605226A>G	uc010kiw.2	-	96	18696	c.18094T>C	c.(18094-18096)TCT>CCT	p.S6032P	SYNE1_uc010kiv.2_Missense_Mutation_p.S556P|SYNE1_uc003qos.3_Missense_Mutation_p.S556P|SYNE1_uc003qot.3_Missense_Mutation_p.S5961P|SYNE1_uc003qou.3_Missense_Mutation_p.S6032P|SYNE1_uc010kiy.1_Missense_Mutation_p.S211P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6032	Spectrin 20.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCCTCACAAGACTCGGATACC	0.557										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152658027	152658027	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:152658027C>T	uc010kiw.2	-	76	13079	c.12477G>A	c.(12475-12477)AGG>AGA	p.R4159R	SYNE1_uc003qot.3_Silent_p.R4088R|SYNE1_uc003qou.3_Silent_p.R4159R|SYNE1_uc010kja.1_Silent_p.R864R|SYNE1_uc010kiz.2_5'Flank	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4159	Spectrin 11.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCAGAGTGCCTCCTCTTCA	0.473										HNSCC(10;0.0054)		
VIP	7432	broad.mit.edu	37	6	153075360	153075360	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:153075360A>T	uc003qpe.2	+	3	339	c.167A>T	c.(166-168)GAA>GTA	p.E56V	VIP_uc003qpf.2_Missense_Mutation_p.E56V|VIP_uc010kjd.2_Missense_Mutation_p.E56V	NM_003381	NP_003372	P01282	VIP_HUMAN	vasoactive intestinal peptide isoform 1	56					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity				0		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		TCATTAAAAGAAGACATTGAC	0.343												
MTRF1L	54516	broad.mit.edu	37	6	153315697	153315697	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:153315697C>T	uc003qpi.3	-	4	743	c.638G>A	c.(637-639)CGC>CAC	p.R213H	MTRF1L_uc003qpl.3_Missense_Mutation_p.R213H|MTRF1L_uc011efa.1_Missense_Mutation_p.R177H|MTRF1L_uc003qpj.3_Missense_Mutation_p.R71H|MTRF1L_uc003qpk.3_Missense_Mutation_p.R177H	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor	213						mitochondrion	translation release factor activity, codon specific				0		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		AGTATGGACGCGGCCTTGCTT	0.512												
TFB1M	51106	broad.mit.edu	37	6	155579106	155579106	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:155579106C>T	uc003qqj.3	-	7	969	c.905G>A	c.(904-906)AGC>AAC	p.S302N	TFB1M_uc003qqk.2_Intron|uc003qqi.1_5'Flank	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		ATCACAGAGGCTCTTAAAGTG	0.463												
EZR	7430	broad.mit.edu	37	6	159191873	159191873	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:159191873T>C	uc003qrt.3	-	9	1228	c.1013A>G	c.(1012-1014)GAG>GGG	p.E338G	EZR_uc011efr.1_5'Flank|EZR_uc011efs.1_Missense_Mutation_p.E306G|EZR_uc003qru.3_Missense_Mutation_p.E338G	NM_003379	NP_003370	P15311	EZRI_HUMAN	ezrin	338	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CATCATCTGCTCTTTCTCTCT	0.547												
IGF2R	3482	broad.mit.edu	37	6	160493903	160493903	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:160493903C>T	uc003qta.2	+	33	4825	c.4677C>T	c.(4675-4677)TGC>TGT	p.C1559C		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1559	11.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATGAAAACTGCCCTCCTGGCG	0.532												
SLC22A2	6582	broad.mit.edu	37	6	160670398	160670398	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:160670398C>T	uc003qtf.2	-	4	862	c.692G>A	c.(691-693)CGG>CAG	p.R231Q	SLC22A2_uc003qte.1_Missense_Mutation_p.R231Q|SLC22A2_uc003qth.1_3'UTR	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	231	Cytoplasmic (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CCGATATCTCCGCCCAACAAA	0.458												
SLC22A3	6581	broad.mit.edu	37	6	160868775	160868775	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:160868775G>A	uc003qti.2	+	10	1562	c.1535G>A	c.(1534-1536)GGC>GAC	p.G512D	SLC22A3_uc011efx.1_RNA	NM_021977	NP_068812	O75751	S22A3_HUMAN	solute carrier family 22 member 3	512	Helical; (Potential).					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		ATCTGTGGTGGCCTTGTGATG	0.517												
MAP3K4	4216	broad.mit.edu	37	6	161510475	161510475	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:161510475T>C	uc003qtn.2	+	11	3087	c.2945T>C	c.(2944-2946)GTC>GCC	p.V982A	MAP3K4_uc010kkc.1_Missense_Mutation_p.V982A|MAP3K4_uc003qto.2_Missense_Mutation_p.V982A|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.V435A|MAP3K4_uc003qtp.2_5'Flank	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	982					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGTCAGCCGGTCATCGCCAAA	0.463												
QKI	9444	broad.mit.edu	37	6	163984516	163984516	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:163984516G>A	uc003qui.2	+	6	1250	c.699G>A	c.(697-699)GCG>GCA	p.A233A	QKI_uc003que.2_Silent_p.A233A|QKI_uc003quf.2_Silent_p.A233A|QKI_uc003qug.2_Silent_p.A233A|QKI_uc003quh.2_Silent_p.A225A|QKI_uc003quj.2_Silent_p.A225A	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	233					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		CTGGGCCTGCGCCGGTTCTCC	0.517												
C6orf118	168090	broad.mit.edu	37	6	165715177	165715177	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:165715177C>T	uc003qum.3	-	2	670	c.634G>A	c.(634-636)GCA>ACA	p.A212T	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	212											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TACCTGTCTGCGCTGGTGGCT	0.622												
PDE10A	10846	broad.mit.edu	37	6	165746572	165746572	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:165746572G>A	uc003qun.2	-	23	2523	c.2282C>T	c.(2281-2283)ACT>ATT	p.T761I	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.T691I|PDE10A_uc003quo.2_Missense_Mutation_p.T771I	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	761					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CCAGGTTGCAGTCTCCTCCCC	0.502												
T	6862	broad.mit.edu	37	6	166574379	166574379	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:166574379G>A	uc003quu.1	-	8	1473	c.980C>T	c.(979-981)GCC>GTC	p.A327V	T_uc003qut.1_Missense_Mutation_p.A328V|T_uc003quv.1_Missense_Mutation_p.A269V	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	327					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GCTGGGATGGGCAGGCATTCC	0.547									Chordoma_Familial_Clustering_of			
RPS6KA2	6196	broad.mit.edu	37	6	166836791	166836791	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:166836791C>T	uc003qvb.1	-	17	1915	c.1696G>A	c.(1696-1698)GGG>AGG	p.G566R	RPS6KA2_uc011ego.1_Missense_Mutation_p.G477R|RPS6KA2_uc010kkl.1_Missense_Mutation_p.G477R|RPS6KA2_uc003qvc.1_Missense_Mutation_p.G574R|RPS6KA2_uc003qvd.1_Missense_Mutation_p.G591R|RPS6KA2_uc010kkk.1_5'UTR	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	566	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ATGAGCAGCCCGTTCCCCGCG	0.617												
TCTE3	6991	broad.mit.edu	37	6	170143237	170143237	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:170143237T>C	uc003qxe.1	-	3	509	c.425A>G	c.(424-426)TAC>TGC	p.Y142C		NM_174910	NP_777570	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	142					transport	cytoplasm|dynein complex|membrane|microtubule	motor activity				0		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		ATAACGGTGGTACCCAAATTC	0.338												
C6orf70	55780	broad.mit.edu	37	6	170176681	170176681	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:170176681A>G	uc003qxg.1	+	16	1684	c.1651A>G	c.(1651-1653)ACC>GCC	p.T551A	C6orf70_uc011ehb.1_Missense_Mutation_p.T425A|C6orf70_uc003qxh.1_Intron|C6orf70_uc010kky.1_Intron|C6orf70_uc003qxi.1_Missense_Mutation_p.T199A	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	hypothetical protein LOC55780	551						integral to membrane				ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		CAGCCAGGTCACCGTTGCCTC	0.617												
FAM120B	84498	broad.mit.edu	37	6	170632310	170632310	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:170632310A>G	uc003qxp.2	+	3	1986	c.1878A>G	c.(1876-1878)CGA>CGG	p.R626R	FAM120B_uc003qxo.1_Silent_p.R626R|FAM120B_uc011ehd.1_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	626					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GTCCCATTCGACAGCGGGTCT	0.488												
GPR146	115330	broad.mit.edu	37	7	1097807	1097807	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:1097807C>T	uc003sjw.2	+	2	732	c.656C>T	c.(655-657)CCC>CTC	p.P219L	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjx.3_Missense_Mutation_p.P219L|GPR146_uc003sjy.1_Missense_Mutation_p.P219L	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	219	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GAGGACACGCCCCTGGACCGG	0.687												
GPER	2852	broad.mit.edu	37	7	1131797	1131797	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:1131797G>A	uc010ksd.1	+	2	822	c.433G>A	c.(433-435)GTC>ATC	p.V145I	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.V145I|GPER_uc003ska.1_Missense_Mutation_p.V145I|GPER_uc003skb.2_Missense_Mutation_p.V145I	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	145	Helical; Name=3; (Potential).			NMYSSVF -> QHVQAASS (in Ref. 7; AAB02736).		endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		GTACAGCAGCGTCTTCTTCCT	0.607												
MICALL2	79778	broad.mit.edu	37	7	1488346	1488346	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:1488346C>T	uc003skj.3	-	3	391	c.244G>A	c.(244-246)GAG>AAG	p.E82K		NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	MICAL-like 2 isoform 1	82	CH.					cytoplasm|cytoskeleton	zinc ion binding			central_nervous_system(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		ACCATGTCCTCGGCATCCAGC	0.642												
SNX8	29886	broad.mit.edu	37	7	2297144	2297144	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:2297144C>T	uc003slw.2	-	9	1033	c.990G>A	c.(988-990)CTG>CTA	p.L330L		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	330					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GCCGCTCGCACAGGTCCTGCG	0.692												
SNX8	29886	broad.mit.edu	37	7	2311527	2311527	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:2311527G>A	uc003slw.2	-	4	541	c.498C>T	c.(496-498)TCC>TCT	p.S166S		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	166	PX.				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CCACATCCTCGGAGAACAGGG	0.662												
C7orf27	221927	broad.mit.edu	37	7	2583333	2583333	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:2583333A>G	uc003smi.2	-	5	736	c.694T>C	c.(694-696)TGG>CGG	p.W232R	C7orf27_uc003smh.3_5'Flank|C7orf27_uc003smj.1_Missense_Mutation_p.W232R	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	232					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		GCTTCCGTCCAGGGGCTCTGG	0.662												
CARD11	84433	broad.mit.edu	37	7	2985499	2985499	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:2985499T>C	uc003smv.2	-	4	716	c.312A>G	c.(310-312)AAA>AAG	p.K104K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	104	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAGTCACCAGTTTGTACAGTT	0.488			Mis		DLBCL							
SDK1	221935	broad.mit.edu	37	7	4153057	4153057	+	Missense_Mutation	SNP	C	C	T	rs78059548		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:4153057C>T	uc003smx.2	+	24	3710	c.3571C>T	c.(3571-3573)CGG>TGG	p.R1191W	SDK1_uc010kso.2_Missense_Mutation_p.R467W	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1191	Fibronectin type-III 6.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GACCAGCCTGCGGCTTCGCTG	0.642												
SDK1	221935	broad.mit.edu	37	7	4169577	4169577	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:4169577G>T	uc003smx.2	+	27	4116	c.3977G>T	c.(3976-3978)AGG>ATG	p.R1326M	SDK1_uc010kso.2_Missense_Mutation_p.R602M|SDK1_uc003smy.2_Translation_Start_Site	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1326	Fibronectin type-III 7.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCGAGCCCAGGAGCCACATC	0.652												
KIAA0415	9907	broad.mit.edu	37	7	4823046	4823046	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:4823046G>A	uc003sne.2	+	4	549	c.466G>A	c.(466-468)GTC>ATC	p.V156I	KIAA0415_uc010ksp.2_RNA	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	156					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		CCTCCTCCCCGTCATGGCCAA	0.692												
KIAA0415	9907	broad.mit.edu	37	7	4824582	4824582	+	Silent	SNP	C	C	T	rs113192428		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:4824582C>T	uc003sne.2	+	7	917	c.834C>T	c.(832-834)TCC>TCT	p.S278S	KIAA0415_uc010ksp.2_RNA	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	278					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		CGGTGATCTCCGCCACCTCCT	0.667												
KIAA0415	9907	broad.mit.edu	37	7	4830499	4830499	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:4830499A>G	uc003sne.2	+	16	2217	c.2134A>G	c.(2134-2136)AGC>GGC	p.S712G	KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Missense_Mutation_p.S189G	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	712					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		GGCCTCCCGGAGCCAAGATCT	0.647												
RADIL	55698	broad.mit.edu	37	7	4839270	4839270	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:4839270C>T	uc003snj.1	-	14	3286	c.3113G>A	c.(3112-3114)GGC>GAC	p.G1038D	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Missense_Mutation_p.G543D|RADIL_uc011jwc.1_Missense_Mutation_p.G798D|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_Missense_Mutation_p.G334D	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	1038	PDZ.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCTCAGGTAGCCAAGGCCCAG	0.706												
RADIL	55698	broad.mit.edu	37	7	4841381	4841381	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:4841381C>A	uc003snj.1	-	12	2918	c.2745G>T	c.(2743-2745)GGG>GGT	p.G915G	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Silent_p.G420G|RADIL_uc011jwc.1_Silent_p.G675G|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_Silent_p.G211G	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	915	Pro-rich.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGTCGGGGTCCCCAGGCTCAG	0.706												
TNRC18	84629	broad.mit.edu	37	7	5352149	5352149	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:5352149G>A	uc003soi.3	-	27	8722	c.8373C>T	c.(8371-8373)TTC>TTT	p.F2791F		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2791							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGGGCTTGCCGAACCACTTCC	0.706												
TNRC18	84629	broad.mit.edu	37	7	5410796	5410796	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:5410796C>T	uc003soi.3	-	11	3778	c.3429G>A	c.(3427-3429)CCG>CCA	p.P1143P		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1143	Pro-rich.						DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCTCCCGCAGCGGCTCTGTGA	0.682												
FBXL18	80028	broad.mit.edu	37	7	5545153	5545153	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:5545153C>T	uc003soo.2	-	2	221	c.127G>A	c.(127-129)GTC>ATC	p.V43I	FBXL18_uc003son.3_Missense_Mutation_p.V43I	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	43	F-box.									central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GTGCTGGGGACGTGACTCAGG	0.562												
EIF2AK1	27102	broad.mit.edu	37	7	6066525	6066525	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:6066525C>T	uc003spp.2	-	14	1744	c.1598G>A	c.(1597-1599)CGA>CAA	p.R533Q	EIF2AK1_uc003spq.2_Missense_Mutation_p.R532Q|EIF2AK1_uc011jwm.1_Missense_Mutation_p.R409Q	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	533	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AACTTCTGCTCGCTCCATTTC	0.468												
DAGLB	221955	broad.mit.edu	37	7	6449476	6449476	+	Missense_Mutation	SNP	C	C	T	rs148435637		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:6449476C>T	uc003sqa.2	-	15	2181	c.2011G>A	c.(2011-2013)GTG>ATG	p.V671M	DAGLB_uc003spy.2_Missense_Mutation_p.V217M|DAGLB_uc003spz.2_Missense_Mutation_p.V368M|DAGLB_uc011jwt.1_Missense_Mutation_p.V485M|DAGLB_uc011jwu.1_Missense_Mutation_p.V542M|DAGLB_uc003sqb.2_Missense_Mutation_p.V390M|DAGLB_uc003sqc.2_Missense_Mutation_p.V390M|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.V630M	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	671	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGTCAGGCCACGTCCACACTG	0.587												
ZNF12	7559	broad.mit.edu	37	7	6731628	6731628	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:6731628A>G	uc003sqt.1	-	5	1499	c.945T>C	c.(943-945)CAT>CAC	p.H315H	ZNF12_uc011jxa.1_Silent_p.H153H|ZNF12_uc003sqs.1_Silent_p.H277H	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	315	C2H2-type 2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GTGTTCTCTGATGCACAGTAA	0.428												
THSD7A	221981	broad.mit.edu	37	7	11676578	11676578	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:11676578G>A	uc003ssf.3	-	2	453	c.201C>T	c.(199-201)GGC>GGT	p.G67G		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	67	TSP type-1 1.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCATACATCGGCCCCATGGAC	0.453										HNSCC(18;0.044)		
THSD7A	221981	broad.mit.edu	37	7	11871469	11871469	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:11871469A>G	uc003ssf.3	-	1	356	c.104T>C	c.(103-105)CTC>CCC	p.L35P		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	35						integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		cagcagcaggagcagcggcag	0.433										HNSCC(18;0.044)		
HDAC9	9734	broad.mit.edu	37	7	18625006	18625006	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:18625006G>A	uc003suh.2	+	2	166	c.125G>A	c.(124-126)CGT>CAT	p.R42H	HDAC9_uc003sue.2_Missense_Mutation_p.R42H|HDAC9_uc011jyd.1_Missense_Mutation_p.R42H|HDAC9_uc003sui.2_Missense_Mutation_p.R42H|HDAC9_uc003suj.2_Missense_Mutation_p.R42H|HDAC9_uc011jya.1_Missense_Mutation_p.R83H|HDAC9_uc003sua.1_Missense_Mutation_p.R61H|HDAC9_uc011jyb.1_Missense_Mutation_p.R42H|HDAC9_uc003sud.1_Missense_Mutation_p.R42H|HDAC9_uc011jyc.1_Missense_Mutation_p.R42H|HDAC9_uc003suf.1_Missense_Mutation_p.R70H|HDAC9_uc010kud.1_Missense_Mutation_p.R42H|HDAC9_uc011jye.1_Missense_Mutation_p.R11H|HDAC9_uc011jyf.1_Missense_Mutation_p.R11H	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	42					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTGTTGTCCGTGAGAAGCAA	0.493												
SP8	221833	broad.mit.edu	37	7	20824196	20824196	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:20824196G>A	uc003suy.2	-	3	1427	c.1186C>T	c.(1186-1188)CGC>TGC	p.R396C	SP8_uc003suz.2_Missense_Mutation_p.R414C	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor isoform 2	396	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						CGCGTGAAGCGCTTGCCGCAG	0.657												
DNAH11	8701	broad.mit.edu	37	7	21657286	21657286	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:21657286G>A	uc003svc.2	+	23	4191	c.4160G>A	c.(4159-4161)GGC>GAC	p.G1387D		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1387	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GCTTACACGGGCCTGGAAGGC	0.502									Kartagener_syndrome			
DNAH11	8701	broad.mit.edu	37	7	21742330	21742330	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:21742330T>A	uc003svc.2	+	38	6235	c.6204T>A	c.(6202-6204)GAT>GAA	p.D2068E		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2068	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GATTTTAGGATCATTACGACT	0.388									Kartagener_syndrome			
CDCA7L	55536	broad.mit.edu	37	7	21945971	21945971	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:21945971A>G	uc010kuk.2	-	6	977	c.857T>C	c.(856-858)TTC>TCC	p.F286S	CDCA7L_uc003sve.3_Missense_Mutation_p.F252S|CDCA7L_uc010kul.2_Missense_Mutation_p.F240S|CDCA7L_uc003svf.3_Missense_Mutation_p.F285S	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	286					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0						TGAGACAGTGAAGTTCTCTAG	0.488												
C7orf46	340277	broad.mit.edu	37	7	23729040	23729040	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:23729040A>T	uc003swo.3	+	3	481	c.392A>T	c.(391-393)GAT>GTT	p.D131V	C7orf46_uc003swq.3_Missense_Mutation_p.D131V|C7orf46_uc003swr.3_Missense_Mutation_p.D73V|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_RNA	NM_199136	NP_954587	A4D161	CG046_HUMAN	hypothetical protein LOC340277 isoform 1	131											0						CACTTTGCTGATCAGCACAGT	0.443												
HOXA3	3200	broad.mit.edu	37	7	27147631	27147631	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:27147631G>A	uc011jzl.1	-	3	1435	c.1235C>T	c.(1234-1236)CCG>CTG	p.P412L	HOXA3_uc011jzk.1_Missense_Mutation_p.P254L|HOXA3_uc003syk.2_Missense_Mutation_p.P412L	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	412					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						CCCAGGCCCCGGCCCGTGGTG	0.677												
TRIL	9865	broad.mit.edu	37	7	28997640	28997640	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:28997640C>T	uc003szt.2	-	1	390	c.23G>A	c.(22-24)CGC>CAC	p.R8H	uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine rich repeats	8					inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding				0						GAGCAGGAGGCGCAAGGCGCG	0.721												
PLEKHA8	84725	broad.mit.edu	37	7	30094482	30094482	+	Splice_Site	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:30094482G>A	uc003tam.1	+	8	1044	c.953_splice	c.e8+1	p.S318_splice	PLEKHA8_uc003tao.2_Splice_Site_p.S202_splice|PLEKHA8_uc003tap.1_Splice_Site_p.S318_splice|PLEKHA8_uc003tan.2_Splice_Site_p.S318_splice	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A						protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4						TGAACACAAGGTATTCTAGAC	0.418												
INMT	11185	broad.mit.edu	37	7	30795070	30795070	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:30795070G>A	uc003tbs.1	+	3	411	c.395G>A	c.(394-396)CGG>CAG	p.R132Q	FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Missense_Mutation_p.R131Q	NM_006774	NP_006765	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	132						cytoplasm	amine N-methyltransferase activity				0						GAGAAGCTGCGGGCAGCGGTG	0.647												
FAM188B	84182	broad.mit.edu	37	7	30825421	30825421	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:30825421C>T	uc003tbt.2	+	4	553	c.476C>T	c.(475-477)CCG>CTG	p.P159L	FAM188B_uc010kwe.2_Missense_Mutation_p.P130L	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182	159											0						AAAAGGCCCCCGCACAAAAGT	0.448												
FAM188B	84182	broad.mit.edu	37	7	30921938	30921938	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:30921938G>A	uc003tbt.2	+	16	2191	c.2114G>A	c.(2113-2115)GGC>GAC	p.G705D	FAM188B_uc010kwe.2_Missense_Mutation_p.G676D|AQP1_uc011kac.1_Missense_Mutation_p.G51D|FAM188B_uc003tbu.2_Missense_Mutation_p.G225D	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182	705											0						TACTACGATGGCCTGGCCAAC	0.622												
PDE1C	5137	broad.mit.edu	37	7	31918629	31918629	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:31918629C>A	uc003tcm.1	-	4	874	c.405G>T	c.(403-405)CAG>CAT	p.Q135H	PDE1C_uc003tcn.1_Missense_Mutation_p.Q135H|PDE1C_uc003tco.1_Missense_Mutation_p.Q195H|PDE1C_uc003tcr.2_Missense_Mutation_p.Q135H|PDE1C_uc003tcs.2_Missense_Mutation_p.Q135H	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	135					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			ATATCCCAGCCTGCACTGCGT	0.507												
BMPER	168667	broad.mit.edu	37	7	34097736	34097736	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:34097736T>C	uc011kap.1	+	10	1107	c.993T>C	c.(991-993)TGT>TGC	p.C331C		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	331	VWFC 5.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						GGACGGAGTGTCGCAATAAGC	0.493												
BMPER	168667	broad.mit.edu	37	7	34118552	34118552	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:34118552T>C	uc011kap.1	+	12	1276	c.1162T>C	c.(1162-1164)TAC>CAC	p.Y388H		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	388	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						GACGTGTCAGTACGTTTTGAC	0.577												
EEPD1	80820	broad.mit.edu	37	7	36194750	36194750	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:36194750G>A	uc003tfa.2	+	2	1457	c.817G>A	c.(817-819)GTG>ATG	p.V273M		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	273					DNA repair		DNA binding				0						GGGCTGTTCCGTGGAGAAGGC	0.612												
VPS41	27072	broad.mit.edu	37	7	38783072	38783072	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:38783072G>A	uc003tgy.2	-	24	2078	c.2052C>T	c.(2050-2052)ATC>ATT	p.I684I	VPS41_uc003tgz.2_Silent_p.I659I|VPS41_uc010kxn.2_Silent_p.I595I|VPS41_uc003tgx.2_RNA	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	684	Clathrin.				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						TGGCAAATTCGATTGCTTTAT	0.418												
POU6F2	11281	broad.mit.edu	37	7	39500290	39500290	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:39500290C>T	uc003thb.1	+	9	1589	c.1547C>T	c.(1546-1548)GCG>GTG	p.A516V		NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	516	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						GAGGGCCCCGCGTACAGCCAG	0.592												
POU6F2	11281	broad.mit.edu	37	7	39504019	39504019	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:39504019C>T	uc003thb.1	+	10	1852	c.1810C>T	c.(1810-1812)CCA>TCA	p.P604S		NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	604					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						CGGGAGTGAACCATCCAAAAA	0.572												
CDK13	8621	broad.mit.edu	37	7	40134449	40134449	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:40134449C>T	uc003thh.3	+	14	4691	c.4409C>T	c.(4408-4410)CCG>CTG	p.P1470L	CDK13_uc003thi.3_Missense_Mutation_p.P1410L|CDK13_uc003thj.2_Missense_Mutation_p.P521L|CDK13_uc003thk.2_Missense_Mutation_p.P403L	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1470					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						CAGGAAAATCCGAGTGGCCCC	0.512												
GLI3	2737	broad.mit.edu	37	7	42018275	42018275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:42018275G>A	uc011kbh.1	-	11	1661	c.1570C>T	c.(1570-1572)CAG>TAG	p.Q524*	GLI3_uc011kbg.1_Nonsense_Mutation_p.Q465*	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	524	C2H2-type 2.				negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						AAGGGTTTCTGCTCTCTTGAG	0.473									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
C7orf44	55744	broad.mit.edu	37	7	43687183	43687183	+	Silent	SNP	G	G	A	rs150071787		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:43687183G>A	uc003tin.1	-	3	160	c.66C>T	c.(64-66)CAC>CAT	p.H22H	C7orf44_uc003til.2_RNA|C7orf44_uc003tii.2_RNA|C7orf44_uc003tij.2_RNA|C7orf44_uc010kxu.1_RNA|C7orf44_uc003tik.2_RNA|C7orf44_uc003tim.1_RNA|C7orf44_uc003tio.1_Silent_p.H22H|C7orf44_uc003tiq.1_Silent_p.H22H|C7orf44_uc003tip.1_Silent_p.H22H	NM_018224	NP_060694	Q9GZY4	CG044_HUMAN	hypothetical protein LOC55744	22	Helical; (Potential).					integral to membrane				ovary(1)	1						AGAACACACCGTGGAAAAGGA	0.488												
URGCP	55665	broad.mit.edu	37	7	43916483	43916483	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:43916483C>T	uc003tiw.2	-	6	2636	c.2579G>A	c.(2578-2580)CGG>CAG	p.R860Q	URGCP_uc003tiu.2_Missense_Mutation_p.R817Q|URGCP_uc003tiv.2_Missense_Mutation_p.R785Q|URGCP_uc003tix.2_Missense_Mutation_p.R851Q|URGCP_uc003tiy.2_Missense_Mutation_p.R817Q|URGCP_uc003tiz.2_Missense_Mutation_p.R817Q|URGCP_uc011kbj.1_Missense_Mutation_p.R817Q	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	860					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						TGCCAGTGCCCGGAAGCCGTC	0.652												
DBNL	28988	broad.mit.edu	37	7	44100420	44100420	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:44100420G>T	uc003tjp.3	+	13	1296	c.1198G>T	c.(1198-1200)GGC>TGC	p.G400C	DBNL_uc003tjo.3_Missense_Mutation_p.G401C|DBNL_uc003tjr.3_Missense_Mutation_p.G273C|DBNL_uc003tjq.3_Missense_Mutation_p.G409C|DBNL_uc011kbm.1_Missense_Mutation_p.G376C|DBNL_uc011kbn.1_Missense_Mutation_p.G297C|DBNL_uc011kbo.1_Missense_Mutation_p.G301C|DBNL_uc011kbp.1_Missense_Mutation_p.G352C|DBNL_uc011kbq.1_Missense_Mutation_p.G325C|DBNL_uc011kbr.1_Missense_Mutation_p.G349C|DBNL_uc011kbs.1_Missense_Mutation_p.G305C	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	drebrin-like isoform b	400	SH3.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			skin(1)	1						CCTCATCACGGGCATCGAGGT	0.587												
PGAM2	5224	broad.mit.edu	37	7	44104740	44104740	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:44104740T>C	uc003tjs.2	-	1	424	c.389A>G	c.(388-390)CAC>CGC	p.H130R		NM_000290	NP_000281	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2	130					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity				0						GTAGTAGGGGTGCTTCTCGTC	0.642												
AEBP1	165	broad.mit.edu	37	7	44150385	44150385	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:44150385T>C	uc003tkb.2	+	12	1767	c.1462T>C	c.(1462-1464)TAC>CAC	p.Y488H	AEBP1_uc003tkc.3_5'UTR|AEBP1_uc003tkd.2_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	488	Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ATGGGTGATGTACACCAACGG	0.582												
AEBP1	165	broad.mit.edu	37	7	44151520	44151520	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:44151520G>A	uc003tkb.2	+	16	2213	c.1908G>A	c.(1906-1908)CTG>CTA	p.L636L	AEBP1_uc003tkc.3_Silent_p.L211L|AEBP1_uc003tkd.2_5'UTR	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	636	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGCTGTTGCTGCTGCTCATGC	0.637												
NPC1L1	29881	broad.mit.edu	37	7	44579394	44579394	+	Missense_Mutation	SNP	C	C	T	rs145094484		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:44579394C>T	uc003tlb.2	-	2	658	c.602G>A	c.(601-603)CGC>CAC	p.R201H	NPC1L1_uc003tlc.2_Missense_Mutation_p.R201H|NPC1L1_uc011kbw.1_Missense_Mutation_p.R201H|NPC1L1_uc003tld.2_Missense_Mutation_p.R201H	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	201	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	GTTGAGCCAGCGCTGGGCATT	0.632												
DDX56	54606	broad.mit.edu	37	7	44612258	44612258	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:44612258G>A	uc003tlg.2	-	4	1112	c.469C>T	c.(469-471)CGT>TGT	p.R157C	DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.R93C|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Missense_Mutation_p.R157C|DDX56_uc010kyh.1_RNA	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 56	157	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			upper_aerodigestive_tract(1)	1						AGGGAGTCACGAAGTTTCAGG	0.517												
OGDH	4967	broad.mit.edu	37	7	44736535	44736535	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:44736535T>C	uc003tln.2	+	15	2032	c.1923T>C	c.(1921-1923)ACT>ACC	p.T641T	OGDH_uc011kbx.1_Silent_p.T637T|OGDH_uc011kby.1_Silent_p.T491T|OGDH_uc003tlp.2_Silent_p.T652T|OGDH_uc011kbz.1_Silent_p.T436T|OGDH_uc003tlo.1_Silent_p.T474T	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	641					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	TCTTGAAGACTCGTGGGGAAA	0.612												
OGDH	4967	broad.mit.edu	37	7	44737841	44737841	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:44737841C>T	uc003tln.2	+	18	2518	c.2409C>T	c.(2407-2409)AAC>AAT	p.N803N	OGDH_uc011kbx.1_Silent_p.N799N|OGDH_uc011kby.1_Silent_p.N653N|OGDH_uc003tlp.2_Silent_p.N814N|OGDH_uc011kbz.1_Silent_p.N598N	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	803					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	AGATGTGCAACGATGACCCAG	0.547												
PURB	5814	broad.mit.edu	37	7	44924609	44924609	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:44924609G>A	uc003tme.2	-	1	352	c.339C>T	c.(337-339)GGC>GGT	p.G113G		NM_033224	NP_150093	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	113	By similarity.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding				0						gccgcggcccgccgcccTCCT	0.572												
TBRG4	9238	broad.mit.edu	37	7	45142092	45142092	+	Splice_Site	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:45142092T>C	uc003tmv.2	-	7	1303	c.1177_splice	c.e7-1	p.V393_splice	TBRG4_uc003tmu.2_Splice_Site_p.V218_splice|TBRG4_uc003tmw.2_Splice_Site_p.V283_splice|TBRG4_uc003tmx.2_Splice_Site_p.V283_splice|TBRG4_uc011kcd.1_Splice_Site_p.V404_splice	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	cell cycle progression 2 protein isoform 1						apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity				0						CTCATGTACCTGGGCAAGGAT	0.602												
ADCY1	107	broad.mit.edu	37	7	45614583	45614583	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:45614583G>T	uc003tne.3	+	1	459	c.441G>T	c.(439-441)CGG>CGT	p.R147R	ADCY1_uc003tnd.2_5'UTR	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	147					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	gccccgcccggggttccgccg	0.507												
ADCY1	107	broad.mit.edu	37	7	45753551	45753551	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:45753551C>A	uc003tne.3	+	20	3335	c.3317C>A	c.(3316-3318)CCA>CAA	p.P1106Q		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	1106	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCACACTCCCCAGGCCAGTAC	0.652												
IGFBP1	3484	broad.mit.edu	37	7	45928278	45928278	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:45928278C>T	uc003tnp.2	+	1	320	c.27C>T	c.(25-27)GTC>GTT	p.V9V	IGFBP1_uc003tno.3_Silent_p.V9V|IGFBP1_uc010kyn.2_Silent_p.V9V	NM_000596	NP_000587	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	9						extracellular space	insulin-like growth factor binding			lung(1)	1						TTGCTCGCGTCTGGCTGGTAC	0.711												
TNS3	64759	broad.mit.edu	37	7	47408456	47408456	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:47408456A>G	uc003tnv.2	-	17	2154	c.1787T>C	c.(1786-1788)GTT>GCT	p.V596A	TNS3_uc003tnw.2_Missense_Mutation_p.V596A	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	596						focal adhesion	protein binding			ovary(4)	4						GTGAGCTACAACCATCTGCTG	0.652												
TNS3	64759	broad.mit.edu	37	7	47408585	47408585	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:47408585C>T	uc003tnv.2	-	17	2025	c.1658G>A	c.(1657-1659)CGG>CAG	p.R553Q	TNS3_uc003tnw.2_Missense_Mutation_p.R553Q	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	553						focal adhesion	protein binding			ovary(4)	4						CCCAAAAGTCCGCTCCCGCTC	0.627												
TNS3	64759	broad.mit.edu	37	7	47409215	47409215	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:47409215A>G	uc003tnv.2	-	17	1395	c.1028T>C	c.(1027-1029)CTA>CCA	p.L343P	TNS3_uc003tnw.2_Missense_Mutation_p.L343P	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	343						focal adhesion	protein binding			ovary(4)	4						CTGCGTGTGTAGCACTGCGGG	0.572												
TNS3	64759	broad.mit.edu	37	7	47440452	47440452	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:47440452C>T	uc003tnv.2	-	14	1150	c.783G>A	c.(781-783)CAG>CAA	p.Q261Q	TNS3_uc003tnw.2_Silent_p.Q261Q|TNS3_uc010kyo.1_3'UTR	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	261	C2 tensin-type.					focal adhesion	protein binding			ovary(4)	4						CAGTGTGAAACTGCAGGCGGA	0.567												
TNS3	64759	broad.mit.edu	37	7	47467920	47467920	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:47467920C>T	uc003tnv.2	-	9	746	c.379G>A	c.(379-381)GTC>ATC	p.V127I	TNS3_uc003tnw.2_Missense_Mutation_p.V127I|TNS3_uc010kyo.1_Missense_Mutation_p.V127I	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	127	Phosphatase tensin-type.					focal adhesion	protein binding			ovary(4)	4						CTGGCTGAGACGTTGGTGAAA	0.532												
C7orf65	401335	broad.mit.edu	37	7	47694914	47694914	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:47694914G>A	uc010kyp.1	+	1	73	c.38G>A	c.(37-39)CGG>CAG	p.R13Q		NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN	hypothetical protein LOC401335	13											0						GAAGGAAGACGGCTCTGGCCG	0.403												
PKD1L1	168507	broad.mit.edu	37	7	47840378	47840378	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:47840378C>T	uc003tny.1	-	54	8062	c.8062G>A	c.(8062-8064)GGG>AGG	p.G2688R	C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2688	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AACAGCAGCCCGGGGAAGGCG	0.567												
PKD1L1	168507	broad.mit.edu	37	7	47944043	47944043	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:47944043G>T	uc003tny.1	-	12	1863	c.1863C>A	c.(1861-1863)GCC>GCA	p.A621A		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	621	Extracellular (Potential).|PKD 2.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						CCCACAGGTAGGCAACATCTG	0.577												
PKD1L1	168507	broad.mit.edu	37	7	47968882	47968882	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:47968882C>T	uc003tny.1	-	7	979	c.979G>A	c.(979-981)GGG>AGG	p.G327R		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	327	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GAACTGTCCCCGAAATCCATC	0.512												
ABCA13	154664	broad.mit.edu	37	7	48313562	48313562	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:48313562T>C	uc003toq.2	+	17	4324	c.4299T>C	c.(4297-4299)TCT>TCC	p.S1433S	ABCA13_uc010kyr.2_Silent_p.S936S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1433					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AAATGAACTCTATATTAAAAA	0.269												
ABCA13	154664	broad.mit.edu	37	7	48412054	48412054	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:48412054T>C	uc003toq.2	+	33	11118	c.11093T>C	c.(11092-11094)GTT>GCT	p.V3698A	ABCA13_uc010kys.1_Missense_Mutation_p.V772A|ABCA13_uc003tos.1_Missense_Mutation_p.V524A	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3698	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GTTCTATTGGTTCTACATAAC	0.348												
COBL	23242	broad.mit.edu	37	7	51096986	51096986	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:51096986C>T	uc003tpr.3	-	10	1992	c.1807G>A	c.(1807-1809)GCT>ACT	p.A603T	COBL_uc003tps.2_Missense_Mutation_p.A660T|COBL_uc011kcl.1_Missense_Mutation_p.A603T|COBL_uc003tpp.3_Missense_Mutation_p.A389T|COBL_uc003tpq.3_Missense_Mutation_p.A544T|COBL_uc003tpo.3_Missense_Mutation_p.A145T	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	603										skin(3)|ovary(2)	5	Glioma(55;0.08)					TCATGGGAAGCGGGGTGCAGG	0.557												
COBL	23242	broad.mit.edu	37	7	51097191	51097191	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:51097191G>A	uc003tpr.3	-	10	1787	c.1602C>T	c.(1600-1602)GGC>GGT	p.G534G	COBL_uc003tps.2_Silent_p.G591G|COBL_uc011kcl.1_Silent_p.G534G|COBL_uc003tpp.3_Silent_p.G320G|COBL_uc003tpq.3_Silent_p.G475G|COBL_uc003tpo.3_Silent_p.G76G	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	534										skin(3)|ovary(2)	5	Glioma(55;0.08)					CATCTGTGTCGCCGTGAGGGA	0.498												
EGFR	1956	broad.mit.edu	37	7	55270249	55270249	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:55270249C>T	uc003tqk.2	+	27	3448	c.3202C>T	c.(3202-3204)CGA>TGA	p.R1068*	EGFR_uc010kzg.1_Nonsense_Mutation_p.R1023*|EGFR_uc011kco.1_Nonsense_Mutation_p.R1015*	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	1068	Cytoplasmic (Potential).|Ser-rich.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTTCTTGCAGCGATACAGCTC	0.483		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
SEPT14	346288	broad.mit.edu	37	7	55912280	55912280	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:55912280C>T	uc003tqz.2	-	4	424	c.307G>A	c.(307-309)GTT>ATT	p.V103I		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	septin 14	103					cell cycle|cell division	septin complex	GTP binding|protein binding				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTCAACTGAACATTGCTTTCC	0.323												
CCT6A	908	broad.mit.edu	37	7	56128577	56128577	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:56128577G>A	uc003trl.1	+	11	1455	c.1291G>A	c.(1291-1293)GGC>AGC	p.G431S	PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.G386S|CCT6A_uc011kcu.1_Missense_Mutation_p.G400S	NM_001762	NP_001753	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A isoform	431					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			upper_aerodigestive_tract(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGTGTAAAGGGCAGGGCACA	0.488												
ZNF107	51427	broad.mit.edu	37	7	64168001	64168001	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:64168001A>G	uc003ttd.2	+	7	2105	c.1319A>G	c.(1318-1320)TAC>TGC	p.Y440C	ZNF107_uc003tte.2_Missense_Mutation_p.Y440C	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	440	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GAGAAACCCTACAAATGTGAA	0.363												
GUSB	2990	broad.mit.edu	37	7	65441107	65441107	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:65441107G>A	uc003tun.2	-	5	883	c.807C>T	c.(805-807)GTC>GTT	p.V269V	GUSB_uc011kdt.1_Intron|GUSB_uc010kzw.1_Silent_p.V102V	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	269					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						CATTCGCCACGACTTTGTTTT	0.522												
BAZ1B	9031	broad.mit.edu	37	7	72856836	72856836	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:72856836G>A	uc003tyc.2	-	19	4487	c.4142C>T	c.(4141-4143)ACG>ATG	p.T1381M		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1381	Bromo.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				CATGGGGTGCGTGATCACATC	0.512												
MLXIPL	51085	broad.mit.edu	37	7	73010556	73010556	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:73010556C>T	uc003tyn.1	-	13	2033	c.1985G>A	c.(1984-1986)CGC>CAC	p.R662H	MLXIPL_uc003tyj.1_Missense_Mutation_p.R41H|MLXIPL_uc003tyk.1_Missense_Mutation_p.R660H|MLXIPL_uc003tyl.1_Missense_Mutation_p.R660H|MLXIPL_uc003tym.1_Missense_Mutation_p.R662H|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.R568H	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	662	Basic motif.				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				GATGTTGAAGCGCCGCTTCTG	0.652												
DNAJC30	84277	broad.mit.edu	37	7	73097222	73097222	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:73097222G>A	uc003tys.1	-	1	560	c.532C>T	c.(532-534)CGG>TGG	p.R178W	WBSCR22_uc010lbi.1_5'Flank|WBSCR22_uc003tyt.2_5'Flank|WBSCR22_uc003tyu.2_5'Flank|WBSCR22_uc003tyv.2_5'Flank|WBSCR22_uc003tyw.1_5'Flank	NM_032317	NP_115693	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog subfamily C member 30	178					protein folding		heat shock protein binding|unfolded protein binding				0						CGCCGTTCCCGCTCCAGTTGT	0.667												
ELN	2006	broad.mit.edu	37	7	73457318	73457318	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:73457318T>C	uc003tzw.2	+	7	421	c.330T>C	c.(328-330)GCT>GCC	p.A110A	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_Intron|ELN_uc011kfe.1_Silent_p.A79A|ELN_uc003tzn.2_Silent_p.A110A|ELN_uc003tzz.2_Silent_p.A98A|ELN_uc003tzo.2_Silent_p.A110A|ELN_uc003tzp.2_Silent_p.A100A|ELN_uc003tzq.2_Intron|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.A110A|ELN_uc003tzt.2_Silent_p.A110A|ELN_uc003tzu.2_Silent_p.A110A|ELN_uc003tzv.2_Silent_p.A100A|ELN_uc003tzx.2_Silent_p.A100A|ELN_uc011kff.1_Silent_p.A110A|ELN_uc003tzy.2_Silent_p.A100A	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	110					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTGCAGGCGCTGGGCTTGGTG	0.552			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome					
CLIP2	7461	broad.mit.edu	37	7	73770846	73770846	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:73770846A>G	uc003uam.2	+	5	1237	c.910A>G	c.(910-912)ATG>GTG	p.M304V	CLIP2_uc003uan.2_Missense_Mutation_p.M304V	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	304						microtubule associated complex				skin(3)	3						GACCAAGCGTATGGCCATGGG	0.622												
GTF2IRD2B	389524	broad.mit.edu	37	7	74564095	74564095	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:74564095A>G	uc003ubt.2	+	16	2057	c.1842A>G	c.(1840-1842)GTA>GTG	p.V614V	GTF2IRD2B_uc010lcd.2_Silent_p.V367V|GTF2IRD2B_uc003ubu.2_Silent_p.V444V	NM_001003795	NP_001003795	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						cgagattagtaagcgtggcct	0												
HIP1	3092	broad.mit.edu	37	7	75182750	75182750	+	Splice_Site	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:75182750A>G	uc003uds.1	-	22	2336	c.2295_splice	c.e22+1	p.E765_splice	HIP1_uc011kfz.1_Splice_Site_p.E642_splice	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1						activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						TACTCCAAGTACCTCGCCGAT	0.537			T	PDGFRB	CMML							
HIP1	3092	broad.mit.edu	37	7	75203099	75203099	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:75203099A>G	uc003uds.1	-	8	753	c.712T>C	c.(712-714)TAC>CAC	p.Y238H	HIP1_uc011kfz.1_Missense_Mutation_p.Y115H	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	238					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						TTGACAGTGTAGTCATAAAGG	0.582			T	PDGFRB	CMML							
POR	5447	broad.mit.edu	37	7	75608787	75608787	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:75608787T>C	uc003udy.2	+	4	338	c.256T>C	c.(256-258)TTC>CTC	p.F86L	POR_uc011kgb.1_RNA|POR_uc011kgc.1_5'Flank|POR_uc011kgd.1_5'Flank|POR_uc011kge.1_5'Flank	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	83	Flavodoxin-like.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	CATCATCGTGTTCTACGGCTC	0.637												
POR	5447	broad.mit.edu	37	7	75615500	75615500	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:75615500G>A	uc003udy.2	+	15	1921	c.1839G>A	c.(1837-1839)AAG>AAA	p.K613K	POR_uc011kgc.1_Silent_p.K421K|POR_uc011kgd.1_Silent_p.K512K|POR_uc011kge.1_Silent_p.K351K|POR_uc003uea.2_Silent_p.K100K	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	610			LKQDREHLW -> R (in AHV).		cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	ACCTGCTAAAGCAAGACCGAG	0.627												
DTX2	113878	broad.mit.edu	37	7	76109916	76109916	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:76109916C>A	uc003uff.3	+	4	646	c.90C>A	c.(88-90)ACC>ACA	p.T30T	DTX2_uc011kgk.1_Intron|DTX2_uc003ufg.3_Silent_p.T30T|DTX2_uc003ufh.3_Silent_p.T30T|DTX2_uc003ufj.3_Silent_p.T30T	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	deltex 2 isoform a	30	WWE 1.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GGCTGGGCACCTGGCACCCCT	0.647												
DTX2	113878	broad.mit.edu	37	7	76112329	76112329	+	Missense_Mutation	SNP	C	C	T	rs138141868	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:76112329C>T	uc003uff.3	+	5	1329	c.773C>T	c.(772-774)GCG>GTG	p.A258V	DTX2_uc011kgk.1_Missense_Mutation_p.A167V|DTX2_uc003ufg.3_Missense_Mutation_p.A258V|DTX2_uc003ufh.3_Missense_Mutation_p.A258V|DTX2_uc003ufj.3_Missense_Mutation_p.A258V	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	deltex 2 isoform a	258					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GCCCGGTCTGCGCCCAGGCTG	0.687												
PION	54103	broad.mit.edu	37	7	76942814	76942814	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:76942814C>T	uc003ugf.2	-	28	2341	c.2262G>A	c.(2260-2262)CGG>CGA	p.R754R	PION_uc011kgo.1_Silent_p.R75R|PION_uc003ugd.2_Silent_p.R148R	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	754					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						CCGGAGGAAGCCGCACAATGA	0.343												
MAGI2	9863	broad.mit.edu	37	7	77756556	77756556	+	Silent	SNP	G	G	A	rs144084071		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:77756556G>A	uc003ugx.2	-	19	3635	c.3381C>T	c.(3379-3381)CCC>CCT	p.P1127P	MAGI2_uc003ugy.2_Silent_p.P1113P|MAGI2_uc010ldx.1_Silent_p.P720P	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	1127						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCCTGGTGTCGGGGGAGTGCT	0.637												
MAGI2	9863	broad.mit.edu	37	7	77762325	77762325	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:77762325C>T	uc003ugx.2	-	18	3338	c.3084G>A	c.(3082-3084)GCG>GCA	p.A1028A	MAGI2_uc003ugy.2_Silent_p.A1014A|MAGI2_uc010ldx.1_Silent_p.A621A	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	1028	Pro-rich.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GACTCTGCTGCGCCATGGGAC	0.627												
GNAT3	346562	broad.mit.edu	37	7	80091865	80091865	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:80091865C>T	uc011kgu.1	-	6	673	c.673G>A	c.(673-675)GCT>ACT	p.A225T	CD36_uc003uhc.2_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha	225					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						CTAAGTGCAGCACAAAATATA	0.388												
CACNA2D1	781	broad.mit.edu	37	7	81598282	81598282	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:81598282T>C	uc003uhr.1	-	29	2572	c.2316A>G	c.(2314-2316)GGA>GGG	p.G772G	CACNA2D1_uc011kgy.1_Intron	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	784	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding	p.G772E(1)		ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AGGCACCAGGTCCACTTTCta	0.284												
PCLO	27445	broad.mit.edu	37	7	82595415	82595415	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:82595415T>C	uc003uhx.2	-	4	3978	c.3689A>G	c.(3688-3690)GAA>GGA	p.E1230G	PCLO_uc003uhv.2_Missense_Mutation_p.E1230G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1169					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTTTTTTTCTTCAGAACGTAT	0.398												
PCLO	27445	broad.mit.edu	37	7	82784067	82784067	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:82784067C>T	uc003uhx.2	-	2	2179	c.1890G>A	c.(1888-1890)ACG>ACA	p.T630T	PCLO_uc003uhv.2_Silent_p.T630T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	576	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CACTTACCTCCGTTAAATGAG	0.383												
SEMA3E	9723	broad.mit.edu	37	7	83047757	83047757	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:83047757T>C	uc003uhy.1	-	5	965	c.499A>G	c.(499-501)AGG>GGG	p.R167G		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	167	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				CATCTGCCCCTTCCTCTCTCA	0.398												
GRM3	2913	broad.mit.edu	37	7	86394753	86394753	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:86394753A>G	uc003uid.2	+	2	1391	c.292A>G	c.(292-294)ACA>GCA	p.T98A	GRM3_uc010lef.2_Missense_Mutation_p.T96A|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	98	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CATTTTGGATACATGTTCAAG	0.423												
FZD1	8321	broad.mit.edu	37	7	90895652	90895652	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:90895652C>T	uc003ula.2	+	1	1870	c.1457C>T	c.(1456-1458)GCG>GTG	p.A486V		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	486	Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			AACGTGGACGCGCTGCGTGGC	0.632												
AKAP9	10142	broad.mit.edu	37	7	91729181	91729181	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:91729181A>G	uc003ulg.2	+	44	11119	c.10894A>G	c.(10894-10896)AAT>GAT	p.N3632D	AKAP9_uc003ulf.2_Missense_Mutation_p.N3624D|AKAP9_uc003uli.2_Missense_Mutation_p.N3255D|AKAP9_uc003ulj.2_Missense_Mutation_p.N1402D|AKAP9_uc003ull.2_Missense_Mutation_p.N528D	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3636	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGGTAGAGATAATGTATGTCC	0.373			T	BRAF	papillary thyroid							
ANKIB1	54467	broad.mit.edu	37	7	91972386	91972386	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:91972386A>G	uc003ulw.2	+	6	1212	c.836A>G	c.(835-837)AAC>AGC	p.N279S		NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	279							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACCCGGAGAACTGCTGCCAA	0.458												
CCDC132	55610	broad.mit.edu	37	7	92883210	92883210	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:92883210C>T	uc003umo.2	+	4	391	c.263C>T	c.(262-264)GCG>GTG	p.A88V	CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.A58V|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Missense_Mutation_p.A88V	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	88	Potential.										0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GAATTAGAGGCGTATAGAGAC	0.318												
TFPI2	7980	broad.mit.edu	37	7	93519623	93519623	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:93519623C>T	uc003umy.1	-	2	172	c.97G>A	c.(97-99)GCG>ACG	p.A33T	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Missense_Mutation_p.A33T|TFPI2_uc003una.1_Intron|TFPI2_uc003unb.1_Missense_Mutation_p.A33T|TFPI2_uc010lfg.1_Intron	NM_006528	NP_006519	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2 precursor	33					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			pancreas(1)	1	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CAGATCTCCGCGTTATTTCCT	0.567												
COL1A2	1278	broad.mit.edu	37	7	94052341	94052341	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:94052341G>T	uc003ung.1	+	40	2947	c.2476G>T	c.(2476-2478)GGT>TGT	p.G826C	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	826			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGACCAAGGTCCAGTTGG	0.562										HNSCC(75;0.22)		
CASD1	64921	broad.mit.edu	37	7	94184854	94184854	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:94184854C>A	uc003uni.3	+	18	2405	c.2178C>A	c.(2176-2178)ATC>ATA	p.I726I	CASD1_uc003unj.3_Silent_p.I726I	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	726	Helical; (Potential).					integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAGGGGTATCTTGGTACTGA	0.378												
PEG10	23089	broad.mit.edu	37	7	94293284	94293284	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:94293284G>A	uc011kie.1	+	2	861	c.644G>A	c.(643-645)CGC>CAC	p.R215H		NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	paternally expressed 10 isoform RF1	139	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGCTGGAGCGCTCCCACTAC	0.537												
SLC25A13	10165	broad.mit.edu	37	7	95751286	95751286	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:95751286T>C	uc003uof.3	-	16	1806	c.1615A>G	c.(1615-1617)ACC>GCC	p.T539A	SLC25A13_uc003uog.3_Missense_Mutation_p.T540A|SLC25A13_uc011kik.1_Missense_Mutation_p.T431A	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	539	Helical; Name=5; (Potential).|Solcar 3.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TCAGCAGGGGTCACTAAAGAT	0.478												
SLC25A13	10165	broad.mit.edu	37	7	95800793	95800793	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:95800793T>C	uc003uof.3	-	12	1412	c.1221A>G	c.(1219-1221)ATA>ATG	p.I407M	SLC25A13_uc003uog.3_Missense_Mutation_p.I408M|SLC25A13_uc011kik.1_Missense_Mutation_p.I299M	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	407	Solcar 1.|Helical; Name=2; (Potential).				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CTGTAAGTTTTATGGCCTTCT	0.333												
ASNS	440	broad.mit.edu	37	7	97482432	97482432	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:97482432A>G	uc003uot.3	-	12	1922	c.1416T>C	c.(1414-1416)GAT>GAC	p.D472D	ASNS_uc011kin.1_Silent_p.D389D|ASNS_uc003uou.3_Silent_p.D472D|ASNS_uc003uov.3_Silent_p.D472D|ASNS_uc011kio.1_Silent_p.D451D|ASNS_uc003uow.3_Silent_p.D451D|ASNS_uc003uox.3_Silent_p.D389D	NM_133436	NP_597680	P08243	ASNS_HUMAN	asparagine synthetase	472	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AAGTTATTCCATCACTGAAGG	0.368												
BAIAP2L1	55971	broad.mit.edu	37	7	97933665	97933665	+	Missense_Mutation	SNP	C	C	T	rs76206450		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:97933665C>T	uc003upj.2	-	12	1528	c.1265G>A	c.(1264-1266)AGC>AAC	p.S422N		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	422					filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			ovary(1)	1	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GTTCACGGTGCTGATGCTTCT	0.532												
TMEM130	222865	broad.mit.edu	37	7	98460759	98460759	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:98460759C>T	uc003upo.2	-	2	539	c.350G>A	c.(349-351)TGC>TAC	p.C117Y	TMEM130_uc011kiq.1_Missense_Mutation_p.C98Y|TMEM130_uc011kir.1_Missense_Mutation_p.C117Y|TMEM130_uc003upn.2_Intron	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	transmembrane protein 130 isoform a	117	Extracellular (Potential).					Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CACAGGCTGGCACATCCAGCA	0.592												
TMEM130	222865	broad.mit.edu	37	7	98460916	98460916	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:98460916C>T	uc003upo.2	-	2	382	c.193G>A	c.(193-195)GCT>ACT	p.A65T	TMEM130_uc011kiq.1_Missense_Mutation_p.A46T|TMEM130_uc011kir.1_Missense_Mutation_p.A65T|TMEM130_uc003upn.2_Intron	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	transmembrane protein 130 isoform a	65	Extracellular (Potential).					Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGGCGTCAGCGGGCAGGGCC	0.642												
TRRAP	8295	broad.mit.edu	37	7	98495397	98495397	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:98495397G>A	uc003upp.2	+	8	750	c.541G>A	c.(541-543)GAG>AAG	p.E181K	TRRAP_uc011kis.1_Missense_Mutation_p.E181K|TRRAP_uc003upr.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	181					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGTGATCCCCGAGAACACAGT	0.398												
TRRAP	8295	broad.mit.edu	37	7	98546206	98546206	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:98546206A>G	uc003upp.2	+	34	4874	c.4665A>G	c.(4663-4665)CGA>CGG	p.R1555R	TRRAP_uc011kis.1_Silent_p.R1537R|TRRAP_uc003upr.2_Silent_p.R1254R	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1555					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTCCATTCCGAGAGCCCCTGA	0.517												
SMURF1	57154	broad.mit.edu	37	7	98658259	98658259	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:98658259T>C	uc003upu.1	-	3	486	c.166A>G	c.(166-168)AAC>GAC	p.N56D	SMURF1_uc003upv.1_Missense_Mutation_p.N56D|SMURF1_uc003upt.2_Missense_Mutation_p.N56D	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	56	C2.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TCCAATGTGTTTTTCACAGTG	0.522												
PTCD1	26024	broad.mit.edu	37	7	99022489	99022489	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:99022489G>A	uc003uqh.2	-	6	1797	c.1666C>T	c.(1666-1668)CAG>TAG	p.Q556*	PTCD1_uc011kiw.1_Nonsense_Mutation_p.Q605*	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	556	PPR 8.									ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CAGAATGTCTGCAGGTTGGGG	0.612												
ZNF789	285989	broad.mit.edu	37	7	99081725	99081725	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:99081725C>T	uc003uqq.1	+	4	443	c.224C>T	c.(223-225)CCG>CTG	p.P75L	ZNF789_uc010lfw.1_5'UTR|ZNF789_uc003uqr.1_Missense_Mutation_p.P17L	NM_213603	NP_998768	Q5FWF6	ZN789_HUMAN	zinc finger protein 789 isoform 1	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTGGATCTACCGAGAACTGGG	0.522												
TRIM4	89122	broad.mit.edu	37	7	99516942	99516942	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:99516942C>T	uc003usd.2	-	1	213	c.83G>A	c.(82-84)GGC>GAC	p.G28D	TRIM4_uc003use.2_Missense_Mutation_p.G28D|TRIM4_uc011kjc.1_5'UTR|TRIM4_uc003usf.2_Missense_Mutation_p.G28D	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	tripartite motif protein TRIM4 isoform alpha	28	RING-type.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			ovary(1)|kidney(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GAAGTTGTGGCCGCACTCGAT	0.697												
ZNF3	7551	broad.mit.edu	37	7	99674943	99674943	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:99674943T>G	uc003usq.2	-	3	345	c.38A>C	c.(37-39)CAG>CCG	p.Q13P	ZNF3_uc003usp.2_Missense_Mutation_p.Q13P|ZNF3_uc003usr.2_Missense_Mutation_p.Q13P|ZNF3_uc010lgj.2_Intron|ZNF3_uc003uss.2_Intron|ZNF3_uc003ust.3_Missense_Mutation_p.Q13P	NM_032924	NP_116313	P17036	ZNF3_HUMAN	zinc finger protein 3 isoform 2	13					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AAGCAGGGCCTGAGGTTCCTG	0.373												
MCM7	4176	broad.mit.edu	37	7	99696971	99696971	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:99696971T>A	uc003usw.1	-	4	842	c.332A>T	c.(331-333)CAG>CTG	p.Q111L	MCM7_uc003usv.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_5'Flank|AP4M1_uc010lgl.1_5'Flank|AP4M1_uc003utb.3_5'Flank|AP4M1_uc003utc.3_5'Flank|AP4M1_uc010lgm.2_5'Flank|AP4M1_uc003utd.2_5'Flank|AP4M1_uc011kjh.1_5'Flank|AP4M1_uc003ute.3_5'Flank|AP4M1_uc003utf.3_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	111					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CCGACTCCGCTGCTCCATCAT	0.478												
LRCH4	4034	broad.mit.edu	37	7	100175504	100175504	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100175504C>T	uc003uvj.2	-	8	1033	c.980G>A	c.(979-981)CGG>CAG	p.R327Q	LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_RNA	NM_002319	NP_002310	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH)	327					nervous system development	PML body	protein binding			large_intestine(1)|ovary(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCTGAGATCCGGAATGACAG	0.622												
TFR2	7036	broad.mit.edu	37	7	100228630	100228630	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100228630G>A	uc003uvv.1	-	9	1193	c.1152C>T	c.(1150-1152)CTC>CTT	p.L384L	TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Silent_p.L213L	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	transferrin receptor 2	384	Extracellular (Potential).				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			ovary(1)|pancreas(1)	2	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGGAGCCTAGGAGGCTCCCCT	0.602												
ACTL6B	51412	broad.mit.edu	37	7	100244182	100244182	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100244182T>C	uc003uvy.2	-	12	1212	c.1105A>G	c.(1105-1107)ACC>GCC	p.T369A	ACTL6B_uc003uvx.1_Missense_Mutation_p.T160A|ACTL6B_uc003uvz.2_RNA	NM_016188	NP_057272	O94805	ACL6B_HUMAN	actin-like 6B	369					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			ovary(1)	1	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					ACCGGTGGGGTCTTCTGGGAA	0.612												
GIGYF1	64599	broad.mit.edu	37	7	100280085	100280085	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100280085G>A	uc003uwg.1	-	21	3630	c.2621C>T	c.(2620-2622)TCG>TTG	p.S874L		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	874								p.S874W(1)		large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGCCGACCCGATAGGTGGCT	0.617												
GIGYF1	64599	broad.mit.edu	37	7	100283827	100283827	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100283827G>T	uc003uwg.1	-	8	1933	c.924C>A	c.(922-924)GCC>GCA	p.A308A		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	308										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AGGCCCCAGAGGCATCAAAGG	0.617												
ZAN	7455	broad.mit.edu	37	7	100350373	100350373	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100350373C>T	uc003uwj.2	+	14	2810	c.2645C>T	c.(2644-2646)ACG>ATG	p.T882M	ZAN_uc003uwk.2_Missense_Mutation_p.T882M|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	882	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCATCCCCACGGAAAAACCC	0.502												
EPHB4	2050	broad.mit.edu	37	7	100417381	100417381	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100417381T>C	uc003uwn.1	-	6	1586	c.1095A>G	c.(1093-1095)CGA>CGG	p.R365R	EPHB4_uc003uwm.1_Silent_p.R272R|EPHB4_uc010lhj.1_Silent_p.R365R|EPHB4_uc011kkf.1_Silent_p.R365R|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Silent_p.R365R	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	365	Extracellular (Potential).|Fibronectin type-III 1.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGCCTCCGGGTCGGCACTCCC	0.711												
SRRT	51593	broad.mit.edu	37	7	100482099	100482099	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100482099C>T	uc003uwy.2	+	8	1136	c.868C>T	c.(868-870)CGG>TGG	p.R290W	SRRT_uc010lhl.1_Missense_Mutation_p.R290W|SRRT_uc003uxa.2_Missense_Mutation_p.R290W|SRRT_uc003uwz.2_Missense_Mutation_p.R290W	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	290	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						AGAAGAAGGACGGGCTGGAGC	0.597												
SRRT	51593	broad.mit.edu	37	7	100482898	100482898	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100482898G>A	uc003uwy.2	+	11	1492	c.1224G>A	c.(1222-1224)GCG>GCA	p.A408A	SRRT_uc010lhl.1_Silent_p.A407A|SRRT_uc003uxa.2_Silent_p.A407A|SRRT_uc003uwz.2_Silent_p.A408A	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	408					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						AGGACGCCGCGGGGCTGGAGT	0.607												
VGF	7425	broad.mit.edu	37	7	100806877	100806877	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100806877C>A	uc003uxx.3	-	2	1466	c.1248G>T	c.(1246-1248)GAG>GAT	p.E416D		NM_003378	NP_003369	O15240	VGF_HUMAN	VGF nerve growth factor inducible precursor	416	Asp/Glu-rich (acidic).				response to cAMP	extracellular space|transport vesicle	growth factor activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					AGCGCTTGTCCTCGGCGCCGG	0.388												
PLOD3	8985	broad.mit.edu	37	7	100859782	100859782	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100859782T>C	uc003uyd.2	-	3	703	c.247A>G	c.(247-249)ACA>GCA	p.T83A	ZNHIT1_uc003uye.2_5'Flank|ZNHIT1_uc003uyf.2_5'Flank	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	83					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCACCAACTGTTCGAGCCACA	0.572												
ZNHIT1	10467	broad.mit.edu	37	7	100867096	100867096	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100867096G>A	uc003uye.2	+	4	908	c.416G>A	c.(415-417)CGC>CAC	p.R139H	ZNHIT1_uc003uyf.2_RNA	NM_006349	NP_006340	O43257	ZNHI1_HUMAN	zinc finger, HIT domain containing 1	139	HIT-type.						metal ion binding|protein binding			large_intestine(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					TGCACTGTGCGCTGTCTGGGG	0.667												
CUX1	1523	broad.mit.edu	37	7	101923346	101923346	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:101923346C>T	uc003uyt.2	+	19	1717	c.1698C>T	c.(1696-1698)GAC>GAT	p.D566D	CUX1_uc011kkn.1_Silent_p.D527D|CUX1_uc003uyw.2_Silent_p.D520D|CUX1_uc003uyv.2_Silent_p.D550D|CUX1_uc003uyu.2_Silent_p.D564D|CUX1_uc003uyz.2_RNA	NM_001913	NP_001904	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform b	376					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						GCAGTGATGACACGGAGCTGC	0.632												
LRWD1	222229	broad.mit.edu	37	7	102107885	102107885	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:102107885C>A	uc003uzn.2	+	4	670	c.532C>A	c.(532-534)CGC>AGC	p.R178S	ALKBH4_uc003uzl.2_5'Flank|ALKBH4_uc003uzm.2_5'Flank|LRWD1_uc003uzo.2_Missense_Mutation_p.R26S	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	178					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			skin(1)	1						CAGGGATGTCCGCTACGGGCC	0.607											OREG0018231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LRRC17	10234	broad.mit.edu	37	7	102574541	102574541	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:102574541C>A	uc003vau.2	+	2	570	c.181C>A	c.(181-183)CAT>AAT	p.H61N	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_Missense_Mutation_p.H61N	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17 isoform 1	61					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				ovary(1)	1						CACATATCTCCATGAGAAATA	0.522												
FBXL13	222235	broad.mit.edu	37	7	102669858	102669858	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:102669858G>A	uc003vaq.2	-	3	435	c.8C>T	c.(7-9)CCG>CTG	p.P3L	FBXL13_uc010lir.1_Missense_Mutation_p.P3L|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.P3L|FBXL13_uc003vav.2_RNA	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	3											0						CATCAATTCCGGAGTCATCTA	0.299												
MLL5	55904	broad.mit.edu	37	7	104752725	104752725	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:104752725G>A	uc003vcm.2	+	27	5056	c.4522G>A	c.(4522-4524)GCC>ACC	p.A1508T	MLL5_uc010ljc.2_Missense_Mutation_p.A1508T|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.A242T	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1508	Pro-rich.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						GAACCTTCCAGCCAATACTCA	0.458												
SLC26A3	1811	broad.mit.edu	37	7	107417105	107417105	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:107417105T>C	uc003ver.2	-	14	1772	c.1561A>G	c.(1561-1563)AAG>GAG	p.K521E	SLC26A3_uc003ves.2_Missense_Mutation_p.K486E	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	521					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4						TTTTTATTCTTATAGATGTTG	0.333												
LAMB1	3912	broad.mit.edu	37	7	107642156	107642156	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:107642156G>A	uc003vew.2	-	3	395	c.60C>T	c.(58-60)CGC>CGT	p.R20R	LAMB1_uc003vev.2_Silent_p.R44R|LAMB1_uc003vex.2_Silent_p.R20R|LAMB1_uc010ljn.1_Silent_p.R106R	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	20					axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTCCTGAGCGCGCACTCGGG	0.637												
NRCAM	4897	broad.mit.edu	37	7	107880468	107880468	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:107880468G>A	uc003vfb.2	-	4	512	c.41C>T	c.(40-42)GCG>GTG	p.A14V	NRCAM_uc003vfc.2_Missense_Mutation_p.A14V|NRCAM_uc011kmk.1_Missense_Mutation_p.A9V|NRCAM_uc003vfd.2_Missense_Mutation_p.A9V|NRCAM_uc003vfe.2_Missense_Mutation_p.A9V	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	14					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						CACTCTGCCCGCAGATAAGCG	0.428												
LRRN3	54674	broad.mit.edu	37	7	110763397	110763397	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:110763397T>C	uc003vft.3	+	4	1615	c.569T>C	c.(568-570)CTA>CCA	p.L190P	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.L190P|LRRN3_uc003vfs.3_Missense_Mutation_p.L190P	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	190	Extracellular (Potential).|LRR 6.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CTTCCAAATCTAGAGATTCTG	0.378												
DOCK4	9732	broad.mit.edu	37	7	111368610	111368610	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:111368610G>A	uc003vfx.2	-	52	5890	c.5621C>T	c.(5620-5622)GCC>GTC	p.A1874V	DOCK4_uc011kml.1_Missense_Mutation_p.A755V|DOCK4_uc011kmm.1_Missense_Mutation_p.A743V|DOCK4_uc003vfw.2_Missense_Mutation_p.A1286V|DOCK4_uc003vfy.2_Missense_Mutation_p.A1919V|DOCK4_uc003vfv.2_Missense_Mutation_p.A187V	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1874					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CGGCAGGGGGGCCGACTGTTC	0.632												
MDFIC	29969	broad.mit.edu	37	7	114655773	114655773	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:114655773G>A	uc003vhf.2	+	5	1115	c.852G>A	c.(850-852)TTG>TTA	p.L284L		NM_199072	NP_951038	Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing protein	175	Cys-rich.				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleolus|nucleolus|nucleus	cyclin binding|Tat protein binding			ovary(1)	1						TGGCTTGCTTGTTCTGCGAAT	0.463												
CFTR	1080	broad.mit.edu	37	7	117199603	117199603	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:117199603A>C	uc003vjd.2	+	11	1610	c.1478A>C	c.(1477-1479)CAG>CCG	p.Q493P	CFTR_uc011knq.1_5'UTR|CFTR_uc003vje.1_RNA	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	493	Cytoplasmic (Potential).|ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTCTGTTCTCAGTTTTCCTGG	0.383									Cystic_Fibrosis			
KCND2	3751	broad.mit.edu	37	7	119915475	119915475	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:119915475T>C	uc003vjj.1	+	1	1754	c.789T>C	c.(787-789)AGT>AGC	p.S263S		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	263	Helical; Name=Segment S3; (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					GTGTCATGAGTATCATCGACG	0.537												
KCND2	3751	broad.mit.edu	37	7	119915782	119915782	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:119915782G>A	uc003vjj.1	+	1	2061	c.1096G>A	c.(1096-1098)GTC>ATC	p.V366I		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	366					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					GTATACCATCGTCACCATGAC	0.507												
TSPAN12	23554	broad.mit.edu	37	7	120455811	120455811	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:120455811C>T	uc003vjk.2	-	5	706	c.332G>A	c.(331-333)GGC>GAC	p.G111D		NM_012338	NP_036470	O95859	TSN12_HUMAN	transmembrane 4 superfamily member 12	111	Extracellular (Potential).				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction					0	all_neural(327;0.117)					TGTCCAAACGCCACAAGCCAG	0.318												
RNF133	168433	broad.mit.edu	37	7	122338733	122338733	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:122338733T>C	uc003vkj.1	-	1	476	c.240A>G	c.(238-240)GGA>GGG	p.G80G	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	ring finger protein 133	80	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			skin(1)	1						TTTGGATTTTTCCCTCTGGTG	0.458												
ASB15	142685	broad.mit.edu	37	7	123269126	123269126	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:123269126A>G	uc003vku.1	+	10	1370	c.1078A>G	c.(1078-1080)AAT>GAT	p.N360D	ASB15_uc003vkw.1_Missense_Mutation_p.N360D	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	360	ANK 7.				intracellular signal transduction					skin(2)|lung(1)	3						TGGCGTTTCTAATAATGACGT	0.448												
HYAL4	23553	broad.mit.edu	37	7	123517154	123517154	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:123517154C>A	uc003vlc.2	+	5	2029	c.1391C>A	c.(1390-1392)TCA>TAA	p.S464*	HYAL4_uc011knz.1_3'UTR	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	464	Helical; (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			skin(1)	1						TCTCCTGGTTCACTAATGACA	0.423												
GPR37	2861	broad.mit.edu	37	7	124387107	124387107	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:124387107G>A	uc003vli.2	-	2	1965	c.1314C>T	c.(1312-1314)TAC>TAT	p.Y438Y		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	438	Extracellular (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						TCGCACTGTCGTAGGTGAGGG	0.488												
GRM8	2918	broad.mit.edu	37	7	126746599	126746599	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:126746599G>A	uc003vlr.2	-	2	989	c.678C>T	c.(676-678)AAC>AAT	p.N226N	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.N226N|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_5'UTR	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	226	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCTCACCATAGTTCCCCTCAG	0.502										HNSCC(24;0.065)		
RBM28	55131	broad.mit.edu	37	7	127950948	127950948	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:127950948T>C	uc003vmp.2	-	19	2297	c.2182A>G	c.(2182-2184)ACC>GCC	p.T728A	RBM28_uc003vmo.2_Missense_Mutation_p.T270A|RBM28_uc011koj.1_Missense_Mutation_p.T587A	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	728					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2						TTGAAGCGGGTTTCCGTCTTA	0.368												
IMPDH1	3614	broad.mit.edu	37	7	128040570	128040570	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:128040570C>T	uc011kol.1	-	5	454	c.348G>A	c.(346-348)ACG>ACA	p.T116T	IMPDH1_uc011kom.1_Silent_p.T111T|IMPDH1_uc003vmt.2_Silent_p.T91T|IMPDH1_uc003vmu.2_Silent_p.T201T|IMPDH1_uc003vmw.2_Silent_p.T191T|IMPDH1_uc011kon.1_Silent_p.T168T|IMPDH1_uc003vmv.2_Silent_p.T165T|IMPDH1_uc003vmx.2_Silent_p.T124T|IMPDH1_uc003vmy.2_Silent_p.T132T	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform e	116	CBS 1.		T -> M (in RP10; does not alter the enzymatic affinity of the corresponding enzyme; alters the affinity and/or the specificity of single-stranded nucleic acid).		GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CCACAGGGTCCGTGATGAAGC	0.607												
FAM71F1	84691	broad.mit.edu	37	7	128356940	128356940	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:128356940T>C	uc003vno.1	+	2	376	c.323T>C	c.(322-324)GTA>GCA	p.V108A	FAM71F1_uc010llo.1_Missense_Mutation_p.V9A|FAM71F1_uc011koq.1_Silent_p.G32G|FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Silent_p.G29G|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.V108A	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	108										skin(1)	1						ACCTCCTCGGTACCCTGCCTG	0.582												
CCDC136	64753	broad.mit.edu	37	7	128441353	128441353	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:128441353C>T	uc003vnv.1	+	4	827	c.460C>T	c.(460-462)CGG>TGG	p.R154W	CCDC136_uc003vnu.1_Missense_Mutation_p.R204W|CCDC136_uc003vnw.1_Missense_Mutation_p.R154W|CCDC136_uc003vnx.1_5'UTR|CCDC136_uc010llq.1_5'UTR	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	154	Glu-rich.					integral to membrane	protein binding			ovary(2)	2						CCAGAGTCTGCGGCAAGCAGC	0.493												
FLNC	2318	broad.mit.edu	37	7	128484941	128484941	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:128484941C>A	uc003vnz.3	+	21	3631	c.3422C>A	c.(3421-3423)CCT>CAT	p.P1141H	FLNC_uc003voa.3_Missense_Mutation_p.P1141H	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1141	Filamin 9.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GCCCACATCCCTGGCTCGCCC	0.632												
IRF5	3663	broad.mit.edu	37	7	128587396	128587396	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:128587396C>T	uc003vog.2	+	7	685	c.564C>T	c.(562-564)CCC>CCT	p.P188P	IRF5_uc010llr.1_Missense_Mutation_p.P171L|IRF5_uc010lls.1_Missense_Mutation_p.P171L|IRF5_uc003voh.2_Silent_p.P172P|IRF5_uc010llt.2_Intron|IRF5_uc003voi.2_Silent_p.P172P|IRF5_uc010llu.1_Missense_Mutation_p.P171L|IRF5_uc003vok.2_3'UTR|IRF5_uc003voj.3_Silent_p.P172P|IRF5_uc010llv.1_3'UTR|IRF5_uc010llw.1_Missense_Mutation_p.P171L	NM_002200	NP_002191	Q13568	IRF5_HUMAN	interferon regulatory factor 5 isoform a	182					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TGCAGCCGCCCACTCTGCAGC	0.667												
SMO	6608	broad.mit.edu	37	7	128845470	128845470	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:128845470G>A	uc003vor.2	+	4	1047	c.767G>A	c.(766-768)TGG>TAG	p.W256*	SMO_uc003vos.2_5'Flank	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	256	Cytoplasmic (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						GTGGCTGACTGGCGGAACTCG	0.537			Mis		skin basal cell 							
FAM40B	57464	broad.mit.edu	37	7	129096388	129096388	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:129096388C>T	uc011koy.1	+	9	983	c.943C>T	c.(943-945)CGT>TGT	p.R315C	FAM40B_uc003vow.2_Missense_Mutation_p.R315C|FAM40B_uc011koz.1_5'Flank	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	315											0						GAAGAGCATGCGTGCTGCCTC	0.602												
CPA1	1357	broad.mit.edu	37	7	130025744	130025744	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:130025744G>A	uc003vpx.2	+	9	1124	c.1052G>A	c.(1051-1053)GGC>GAC	p.G351D	CPA1_uc003vpw.2_Missense_Mutation_p.G185D	NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	351					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					TTCAACTATGGCAGCATCATC	0.542												
PODXL	5420	broad.mit.edu	37	7	131189178	131189178	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:131189178C>A	uc003vqw.3	-	9	1827	c.1569G>T	c.(1567-1569)CAG>CAT	p.Q523H	PODXL_uc003vqx.3_Missense_Mutation_p.Q491H	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	523	Cytoplasmic (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)					CCTTCTTCTCCTGCATCTCAG	0.567												
PODXL	5420	broad.mit.edu	37	7	131195724	131195724	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:131195724C>T	uc003vqw.3	-	2	827	c.569G>A	c.(568-570)CGA>CAA	p.R190Q	PODXL_uc003vqx.3_Missense_Mutation_p.R190Q	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	190	Thr-rich.|Extracellular (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)					AGTGGGTTGTCGGGGGCTAAG	0.542												
PLXNA4	91584	broad.mit.edu	37	7	131887472	131887472	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:131887472G>A	uc003vra.3	-	12	2748	c.2519C>T	c.(2518-2520)GCC>GTC	p.A840V		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	840	PSI 3.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GCTCTCCTGGGCAGGGCAGTG	0.652												
PLXNA4	91584	broad.mit.edu	37	7	132174163	132174163	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:132174163C>T	uc003vra.3	-	3	1488	c.1259G>A	c.(1258-1260)CGT>CAT	p.R420H	PLXNA4_uc003vrc.2_Missense_Mutation_p.R420H|PLXNA4_uc003vrb.2_Missense_Mutation_p.R420H	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	420	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GGGAATTCCACGCACCATGTC	0.488												
BPGM	669	broad.mit.edu	37	7	134346399	134346399	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:134346399C>T	uc003vrv.2	+	3	681	c.140C>T	c.(139-141)GCG>GTG	p.A47V	BPGM_uc003vrw.2_Missense_Mutation_p.A47V|BPGM_uc003vrx.2_Missense_Mutation_p.A47V	NM_199186	NP_954655	P07738	PMGE_HUMAN	bisphosphoglycerate mutase	47					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0						CAACTCAAAGCGTTAAACTTT	0.483												
CALD1	800	broad.mit.edu	37	7	134625972	134625972	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:134625972A>G	uc003vrz.2	+	7	1975	c.1516A>G	c.(1516-1518)ACT>GCT	p.T506A	CALD1_uc003vry.2_Missense_Mutation_p.T251A|CALD1_uc003vsa.2_Missense_Mutation_p.T277A|CALD1_uc003vsb.2_Missense_Mutation_p.T251A|CALD1_uc010lmm.2_Missense_Mutation_p.T277A|CALD1_uc011kpt.1_Missense_Mutation_p.T25A|CALD1_uc003vsc.2_Missense_Mutation_p.T271A|CALD1_uc003vsd.2_Missense_Mutation_p.T245A|CALD1_uc011kpu.1_Missense_Mutation_p.T256A|CALD1_uc011kpv.1_Missense_Mutation_p.T115A|CALD1_uc003vse.2_Missense_Mutation_p.T370A	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	506					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						ACTTAAACATACTGAGAATAC	0.363												
TMEM140	55281	broad.mit.edu	37	7	134849267	134849267	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:134849267T>C	uc003vsi.2	+	2	355	c.74T>C	c.(73-75)ATC>ACC	p.I25T	C7orf49_uc003vsh.2_Intron	NM_018295	NP_060765	Q9NV12	TM140_HUMAN	transmembrane protein 140	25	Helical; (Potential).					integral to membrane				large_intestine(1)	1						ATTGTGGTCATCTGCCTGATG	0.577												
NUP205	23165	broad.mit.edu	37	7	135333151	135333151	+	Splice_Site	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:135333151G>A	uc003vsw.2	+	43	5918	c.5887_splice	c.e43-1	p.L1963_splice	NUP205_uc003vsx.2_Splice_Site	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						GTCACCGCTAGCTTCAGGCTG	0.313												
SLC13A4	26266	broad.mit.edu	37	7	135370392	135370392	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:135370392A>G	uc003vta.2	-	14	2172	c.1483T>C	c.(1483-1485)TCC>CCC	p.S495P	SLC13A4_uc003vtb.2_Missense_Mutation_p.S496P|PL-5283_uc003vsz.3_Intron	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	495						integral to plasma membrane	sodium:sulfate symporter activity				0						CTGCTCAGGGACAACATCTGG	0.522												
AKR1D1	6718	broad.mit.edu	37	7	137790156	137790156	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:137790156A>G	uc003vtz.2	+	5	629	c.560A>G	c.(559-561)CAC>CGC	p.H187R	AKR1D1_uc011kqb.1_Missense_Mutation_p.H187R|AKR1D1_uc011kqc.1_RNA|AKR1D1_uc011kqd.1_RNA|AKR1D1_uc011kqe.1_Missense_Mutation_p.H187R|AKR1D1_uc011kqf.1_Intron|AKR1D1_uc010lmy.1_RNA	NM_005989	NP_005980	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	187					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			skin(1)	1						GGACTCAAACACAAGCCAGTC	0.527												
ZC3HAV1	56829	broad.mit.edu	37	7	138768595	138768595	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:138768595C>T	uc003vun.2	-	3	1016	c.628G>A	c.(628-630)GAC>AAC	p.D210N	ZC3HAV1_uc003vup.2_Missense_Mutation_p.D210N	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	210					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1						TGGACCACGTCGGGGTTCAGC	0.542												
KLRG2	346689	broad.mit.edu	37	7	139168208	139168208	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:139168208C>A	uc003vvb.2	-	1	250	c.181G>T	c.(181-183)GGC>TGC	p.G61C	KLRG2_uc010lnc.2_Missense_Mutation_p.G61C	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	61	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)					GGCTCCAGGCCTGCGCCCGCC	0.741												
HIPK2	28996	broad.mit.edu	37	7	139416624	139416624	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:139416624G>T	uc003vvf.3	-	2	384	c.210C>A	c.(208-210)TCC>TCA	p.S70S	HIPK2_uc003vvd.3_Silent_p.S70S	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	70					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					GGACCGGCAAGGAGGTGCTGA	0.587												
TBXAS1	6916	broad.mit.edu	37	7	139719836	139719836	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:139719836G>A	uc011kqv.1	+	14	1844	c.1680G>A	c.(1678-1680)CAG>CAA	p.Q560Q	TBXAS1_uc003vvh.2_Silent_p.Q514Q|TBXAS1_uc010lne.2_Silent_p.Q446Q|TBXAS1_uc003vvi.2_Silent_p.Q514Q|TBXAS1_uc003vvj.2_Missense_Mutation_p.S460N|TBXAS1_uc011kqw.1_Silent_p.Q494Q	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	513	Cytoplasmic (Potential).				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)					TACCGCTGCAGCTAGAATCCA	0.338												
PARP12	64761	broad.mit.edu	37	7	139741630	139741630	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:139741630G>T	uc003vvl.1	-	6	1870	c.996C>A	c.(994-996)TGC>TGA	p.C332*	PARP12_uc003vvk.1_Nonsense_Mutation_p.C118*|PARP12_uc010lnf.1_RNA	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	poly ADP-ribose polymerase 12	332	WWE 1.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)	3	Melanoma(164;0.0142)					CTGACTCAGAGCACAGGATCC	0.527												
DENND2A	27147	broad.mit.edu	37	7	140221778	140221778	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:140221778G>A	uc010lnj.2	-	16	2933	c.2788C>T	c.(2788-2790)CGG>TGG	p.R930W	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.R930W|DENND2A_uc003vvw.2_Missense_Mutation_p.R930W	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	930	dDENN.									ovary(3)|breast(1)	4	Melanoma(164;0.00956)					AAGGCCTCCCGCTGCAGGGTT	0.587												
DENND2A	27147	broad.mit.edu	37	7	140285507	140285507	+	Missense_Mutation	SNP	G	G	A	rs146125611	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:140285507G>A	uc010lnj.2	-	3	1272	c.1127C>T	c.(1126-1128)CCG>CTG	p.P376L	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.P376L|DENND2A_uc003vvw.2_Missense_Mutation_p.P376L|DENND2A_uc003vvx.2_Missense_Mutation_p.P376L	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	376										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					CTTCATTGGCGGATCTGTGTT	0.483												
BRAF	673	broad.mit.edu	37	7	140454015	140454015	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:140454015T>C	uc003vwc.3	-	14	1774	c.1713A>G	c.(1711-1713)TCA>TCG	p.S571S		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	571	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGTGGATGATTGACTTGGCGT	0.393		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome			
BRAF	673	broad.mit.edu	37	7	140487348	140487348	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:140487348C>A	uc003vwc.3	-	9	1238	c.1177G>T	c.(1177-1179)GGA>TGA	p.G393*		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	393					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	CACTACTTACCTCCATCACCA	0.343		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome			
MGAM	8972	broad.mit.edu	37	7	141754637	141754637	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:141754637A>G	uc003vwy.2	+	27	3297	c.3243A>G	c.(3241-3243)CAA>CAG	p.Q1081Q		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1081	Glucoamylase.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGAGGGTCAACTCTATGATG	0.458												
TRPV6	55503	broad.mit.edu	37	7	142574967	142574967	+	Missense_Mutation	SNP	G	G	A	rs141260669	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:142574967G>A	uc003wbx.1	-	4	631	c.415C>T	c.(415-417)CGC>TGC	p.R139C	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_Missense_Mutation_p.R10C	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	139	ANK 3.|Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					CTGGCCCTGCGGGCAAGCAGG	0.527												
KEL	3792	broad.mit.edu	37	7	142651037	142651037	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:142651037C>G	uc003wcb.2	-	9	1141	c.931G>C	c.(931-933)GCC>CCC	p.A311P		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	311	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)					ATGGCGGGGGCCATTTCCTTA	0.532												
EPHA1	2041	broad.mit.edu	37	7	143097047	143097047	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:143097047G>A	uc003wcz.2	-	4	619	c.532C>T	c.(532-534)CGC>TGC	p.R178C		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	178	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGGCCACGGCGGGTCAGGCGG	0.622												
FAM115A	9747	broad.mit.edu	37	7	143573685	143573685	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:143573685G>A	uc003wdo.1	-	2	150	c.17C>T	c.(16-18)GCT>GTT	p.A6V	FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Missense_Mutation_p.A6V	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN	hypothetical protein LOC9747	6											0	Melanoma(164;0.0903)					CTCGAAGGCAGCAGAGGGAGT	0.468												
OR2A25	392138	broad.mit.edu	37	7	143771510	143771510	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:143771510G>A	uc011ktx.1	+	1	198	c.198G>A	c.(196-198)GCG>GCA	p.A66A		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					CACACCTGGCGGTCGTCGACA	0.577												
OR2A12	346525	broad.mit.edu	37	7	143793059	143793059	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:143793059C>A	uc011kty.1	+	1	859	c.859C>A	c.(859-861)CTC>ATC	p.L287I		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)					CCTGAACCCCCTCATCTACAG	0.468												
CNTNAP2	26047	broad.mit.edu	37	7	148112638	148112638	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:148112638C>G	uc003weu.1	+	24	4442	c.3926C>G	c.(3925-3927)GCC>GGC	p.A1309G	CNTNAP2_uc003wev.1_Missense_Mutation_p.A86G	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	1309	Cytoplasmic (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGCGCGGACGCCGCCATCATG	0.557										HNSCC(39;0.1)		
CUL1	8454	broad.mit.edu	37	7	148451198	148451198	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:148451198C>T	uc010lpg.2	+	3	797	c.271C>T	c.(271-273)CGA>TGA	p.R91*	CUL1_uc003wey.2_Nonsense_Mutation_p.R91*|CUL1_uc003wez.2_Translation_Start_Site	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ATTATATAAACGACTTAAGGA	0.368												
ZNF398	57541	broad.mit.edu	37	7	148876238	148876238	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:148876238G>A	uc003wfl.2	+	6	1549	c.1274G>A	c.(1273-1275)CGT>CAT	p.R425H	ZNF398_uc011kul.1_Missense_Mutation_p.R254H|ZNF398_uc011kum.1_Missense_Mutation_p.R430H	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	425					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			AGCACTGAGCGTCCTTTCCCC	0.592												
SSPO	23145	broad.mit.edu	37	7	149477454	149477454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:149477454C>T	uc010lpk.2	+	12	1525	c.1525C>T	c.(1525-1527)CGA>TGA	p.R509*	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	509	TIL 1.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGAGTGCCCGCGAGGCCTCTT	0.662												
SSPO	23145	broad.mit.edu	37	7	149497409	149497409	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:149497409G>A	uc010lpk.2	+	50	7167	c.7167G>A	c.(7165-7167)GTG>GTA	p.V2389V		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2389					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCCACCTGTGCAGTGTGGCC	0.672												
SSPO	23145	broad.mit.edu	37	7	149500066	149500066	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:149500066G>T	uc010lpk.2	+	53	7692	c.7692G>T	c.(7690-7692)TGG>TGT	p.W2564C		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2564	TSP type-1 5.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGAGGCCTGGGGACCCTGCA	0.677												
REPIN1	29803	broad.mit.edu	37	7	150069776	150069776	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150069776C>T	uc010lpq.1	+	4	1935	c.1446C>T	c.(1444-1446)ACC>ACT	p.T482T	REPIN1_uc003whd.2_Silent_p.T471T|REPIN1_uc010lpr.1_Silent_p.T539T|REPIN1_uc003whc.2_Silent_p.T482T|REPIN1_uc003whe.2_Silent_p.T482T	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	replication initiator 1 isoform 1	482					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			pancreas(1)	1	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCATCCACACCGGCGAGAAGC	0.697												
TMEM176B	28959	broad.mit.edu	37	7	150493585	150493585	+	Missense_Mutation	SNP	C	C	T	rs142435838		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150493585C>T	uc003wht.3	-	2	239	c.73G>A	c.(73-75)GTC>ATC	p.V25I	TMEM176B_uc003whu.3_Missense_Mutation_p.V25I|TMEM176B_uc003whv.3_Missense_Mutation_p.V25I|TMEM176B_uc003whw.3_Missense_Mutation_p.V25I	NM_001101313	NP_001094783	Q3YBM2	T176B_HUMAN	transmembrane protein 176B isoform a	25					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGATGTGGACGTTGACGTGG	0.532												
ABP1	26	broad.mit.edu	37	7	150554719	150554719	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150554719C>T	uc003why.1	+	3	5379	c.1161C>T	c.(1159-1161)CCC>CCT	p.P387P	ABP1_uc003whz.1_Silent_p.P387P|ABP1_uc003wia.1_Silent_p.P387P	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	387					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	AGTTAGCCCCCGGCATCGACT	0.602												
ABP1	26	broad.mit.edu	37	7	150555029	150555029	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150555029A>G	uc003why.1	+	3	5689	c.1471A>G	c.(1471-1473)ACC>GCC	p.T491A	ABP1_uc003whz.1_Missense_Mutation_p.T491A|ABP1_uc003wia.1_Missense_Mutation_p.T491A	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	491					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CACCTTCTACACCCCCGAGGG	0.562												
ABP1	26	broad.mit.edu	37	7	150558050	150558050	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150558050C>T	uc003why.1	+	6	6227	c.2009C>T	c.(2008-2010)ACG>ATG	p.T670M	ABP1_uc003whz.1_Missense_Mutation_p.T670M|ABP1_uc003wia.1_Missense_Mutation_p.T689M	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	670					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	p.T670T(1)		ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GCCTGGGTGACGGTGGGCTTC	0.602												
KCNH2	3757	broad.mit.edu	37	7	150656686	150656686	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150656686C>G	uc003wic.2	-	3	459	c.446G>C	c.(445-447)GGC>GCC	p.G149A	KCNH2_uc011kux.1_Missense_Mutation_p.G53A|KCNH2_uc003wie.2_Missense_Mutation_p.G149A	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	149	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGTGGGGGGGCCCCGGTGGTT	0.582												
ATG9B	285973	broad.mit.edu	37	7	150721263	150721263	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150721263G>A	uc011kvc.1	-	1	324	c.248C>T	c.(247-249)GCT>GTT	p.A83V	ATG9B_uc003wig.3_5'Flank	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	83	Pro-rich.|Cytoplasmic (By similarity).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGACTGAGAAGCCCCTGTCCC	0.612												
ABCB8	11194	broad.mit.edu	37	7	150737962	150737962	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150737962C>T	uc003wil.3	+	13	1580	c.1487C>T	c.(1486-1488)ACG>ATG	p.T496M	ABCB8_uc010lpw.1_Silent_p.D371D|ABCB8_uc010lpx.2_Missense_Mutation_p.T479M|ABCB8_uc011kvd.1_Missense_Mutation_p.T391M|ABCB8_uc003wim.3_Missense_Mutation_p.T274M|ABCB8_uc003wik.3_Missense_Mutation_p.T479M	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	496	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCACCCTGACGCTGCCCCCT	0.657												
ACCN3	9311	broad.mit.edu	37	7	150749682	150749682	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150749682C>T	uc003win.2	+	11	1907	c.1539C>T	c.(1537-1539)GCC>GCT	p.A513A	ACCN3_uc003wio.2_Missense_Mutation_p.P520L|ACCN3_uc003wip.2_Missense_Mutation_p.R494C|ACCN3_uc003wiq.2_RNA	NM_004769	NP_004760	Q9UHC3	ACCN3_HUMAN	amiloride-sensitive cation channel 3 isoform a	513	Cytoplasmic (Potential).				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCCTGTGCCGTCACCAAGA	0.632												
SLC4A2	6522	broad.mit.edu	37	7	150761736	150761736	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150761736C>A	uc003wit.3	+	4	597	c.341C>A	c.(340-342)CCG>CAG	p.P114Q	SLC4A2_uc011kve.1_Missense_Mutation_p.P105Q|SLC4A2_uc003wiu.3_Missense_Mutation_p.P100Q	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	114	Cytoplasmic (Potential).|Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAGCCTCCCCGACTGGAGAA	0.687												
FASTK	10922	broad.mit.edu	37	7	150775020	150775020	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150775020G>A	uc003wix.1	-	5	1083	c.985C>T	c.(985-987)CCC>TCC	p.P329S	uc011kvf.1_5'Flank|FASTK_uc003wiw.1_Missense_Mutation_p.P90S|FASTK_uc003wiy.1_Missense_Mutation_p.P188S|FASTK_uc003wiz.1_Missense_Mutation_p.P302S|FASTK_uc003wja.1_3'UTR	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase isoform 1	329					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(2)|stomach(2)	4			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GCTCTGAAGGGCAGGCACCGC	0.592												
FASTK	10922	broad.mit.edu	37	7	150775740	150775740	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150775740T>C	uc003wix.1	-	4	832	c.734A>G	c.(733-735)CAG>CGG	p.Q245R	uc011kvf.1_5'Flank|FASTK_uc003wiw.1_Missense_Mutation_p.Q6R|FASTK_uc003wiy.1_Missense_Mutation_p.Q104R|FASTK_uc003wiz.1_Missense_Mutation_p.Q218R|FASTK_uc003wja.1_Intron	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase isoform 1	245					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(2)|stomach(2)	4			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GGCCAGGTGCTGGGCCAGGAG	0.652												
FASTK	10922	broad.mit.edu	37	7	150776883	150776883	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150776883T>C	uc003wix.1	-	2	307	c.209A>G	c.(208-210)GAC>GGC	p.D70G	FASTK_uc003wiw.1_Intron|FASTK_uc003wiy.1_Intron|FASTK_uc003wiz.1_Missense_Mutation_p.D70G|FASTK_uc003wja.1_Missense_Mutation_p.D36G	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase isoform 1	70					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(2)|stomach(2)	4			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AACAGGCCGGTCCCCCCATTT	0.667												
AGAP3	116988	broad.mit.edu	37	7	150839592	150839592	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150839592G>A	uc003wjg.1	+	16	2147	c.2144G>A	c.(2143-2145)CGC>CAC	p.R715H	AGAP3_uc003wje.1_Missense_Mutation_p.R384H|AGAP3_uc003wjj.1_Missense_Mutation_p.R214H|AGAP3_uc003wjk.1_Missense_Mutation_p.R133H	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	679	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3						TCCCGGGTGCGCTCCCTTGAC	0.652												
ASB10	136371	broad.mit.edu	37	7	150873338	150873338	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150873338G>T	uc003wjm.1	-	5	1526	c.1400C>A	c.(1399-1401)CCC>CAC	p.P467H	ASB10_uc003wjl.1_Missense_Mutation_p.P429H|ASB10_uc003wjn.1_Missense_Mutation_p.P407H	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	422	SOCS box.				intracellular signal transduction						0			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCGACCTGGGCTGCCTCAC	0.672												
ABCF2	10061	broad.mit.edu	37	7	150913110	150913110	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150913110T>C	uc003wjp.2	-	12	1455	c.1344A>G	c.(1342-1344)CTA>CTG	p.L448L	ABCF2_uc003wjo.1_Silent_p.L448L	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F, member 2	448	ABC transporter 2.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCTGTGGGTAGTAGCTAGG	0.468												
SMARCD3	6604	broad.mit.edu	37	7	150937242	150937242	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:150937242G>A	uc003wjs.2	-	10	1230	c.1129C>T	c.(1129-1131)CTA>TTA	p.L377L	SMARCD3_uc003wjt.2_Silent_p.L364L|SMARCD3_uc003wju.2_Silent_p.L364L	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin	377					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCGTGGATAGGAGGAAGCTG	0.572												
WDR86	349136	broad.mit.edu	37	7	151093046	151093046	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:151093046G>A	uc003wkb.2	-	3	991	c.542C>T	c.(541-543)GCC>GTC	p.A181V	WDR86_uc003wka.2_Missense_Mutation_p.A139V|WDR86_uc011kvk.1_Missense_Mutation_p.A181V|WDR86_uc003wkc.2_Missense_Mutation_p.A53V	NM_198285	NP_938026	Q86TI4	WDR86_HUMAN	WD repeat domain 86	181	WD 4.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGCCGCTGGCCACCTGCCA	0.716												
DPP6	1804	broad.mit.edu	37	7	154561143	154561143	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:154561143A>G	uc003wlk.2	+	9	1029	c.900A>G	c.(898-900)ACA>ACG	p.T300T	DPP6_uc003wli.2_Silent_p.T236T|DPP6_uc003wlm.2_Silent_p.T238T|DPP6_uc011kvq.1_Silent_p.T193T	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	300	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTTTGAAGACACACATCGCAC	0.517												
DPP6	1804	broad.mit.edu	37	7	154595578	154595578	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:154595578A>G	uc003wlk.2	+	14	1541	c.1412A>G	c.(1411-1413)AAC>AGC	p.N471S	DPP6_uc003wli.2_Missense_Mutation_p.N407S|DPP6_uc003wlm.2_Missense_Mutation_p.N409S|DPP6_uc011kvq.1_Missense_Mutation_p.N364S	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	471	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTTCAGCCCAACAGCAGCAAC	0.557												
PAXIP1	22976	broad.mit.edu	37	7	154738222	154738222	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:154738222C>A	uc003wlp.2	-	19	3176	c.3133G>T	c.(3133-3135)GAT>TAT	p.D1045Y	LOC100132707_uc011kvr.1_Intron|LOC100132707_uc003wlo.2_Intron|PAXIP1_uc003wlq.1_Missense_Mutation_p.D1011Y|PAXIP1_uc011kvs.1_Missense_Mutation_p.D1009Y	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	PAX interacting protein 1	1045	Interaction with TP53BP1.|BRCT 6.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GGAAACGTACCTATGCCTCTG	0.408												
HTR5A	3361	broad.mit.edu	37	7	154876139	154876139	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:154876139C>T	uc003wlu.1	+	2	1080	c.1016C>T	c.(1015-1017)ACG>ATG	p.T339M		NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	339	Helical; Name=7; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTGATCTATACGGCTTTCAAC	0.473												
INSIG1	3638	broad.mit.edu	37	7	155093391	155093391	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:155093391C>T	uc003wly.2	+	3	739	c.528C>T	c.(526-528)CAC>CAT	p.H176H	INSIG1_uc011kvu.1_Intron|INSIG1_uc003wlz.2_Intron	NM_005542	NP_005533	O15503	INSI1_HUMAN	insulin induced gene 1 isoform 1	176	Helical; (Potential).				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCATTAACCACGCCAGTGCTG	0.423												
RNF32	140545	broad.mit.edu	37	7	156451251	156451251	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:156451251T>C	uc003wmo.2	+	7	853	c.671T>C	c.(670-672)TTC>TCC	p.F224S	RNF32_uc010lql.1_RNA|RNF32_uc010lqm.2_Missense_Mutation_p.F224S|RNF32_uc003wmq.2_Missense_Mutation_p.F224S|RNF32_uc003wmr.2_Missense_Mutation_p.F224S|RNF32_uc003wms.2_Missense_Mutation_p.F224S|RNF32_uc003wmu.2_RNA|RNF32_uc003wmt.2_Missense_Mutation_p.F224S	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	ring finger protein 32	224						aggresome|endosome	protein binding|zinc ion binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGAAAAAAATTCTTTGAAAAA	0.423												
ARHGEF10	9639	broad.mit.edu	37	8	1842674	1842674	+	Missense_Mutation	SNP	C	C	T	rs144726787		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:1842674C>T	uc003wpr.2	+	13	1554	c.1376C>T	c.(1375-1377)GCG>GTG	p.A459V	ARHGEF10_uc003wpq.1_Missense_Mutation_p.A484V|ARHGEF10_uc003wps.2_Missense_Mutation_p.A421V|ARHGEF10_uc003wpt.2_Missense_Mutation_p.A335V|ARHGEF10_uc003wpv.2_Missense_Mutation_p.A192V|ARHGEF10_uc010lre.2_Missense_Mutation_p.A139V	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	484	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TTTCAGATCGCGCTGGCCAGC	0.547												
ARHGEF10	9639	broad.mit.edu	37	8	1851490	1851490	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:1851490C>A	uc003wpr.2	+	16	1872	c.1694C>A	c.(1693-1695)CCT>CAT	p.P565H	ARHGEF10_uc003wpq.1_Missense_Mutation_p.P589H|ARHGEF10_uc003wps.2_Missense_Mutation_p.P527H|ARHGEF10_uc003wpt.2_Missense_Mutation_p.P441H|ARHGEF10_uc003wpv.2_Missense_Mutation_p.P298H|ARHGEF10_uc010lre.2_Missense_Mutation_p.P245H	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	590	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GACAGGCTGCCTCTTCAGATG	0.507												
MYOM2	9172	broad.mit.edu	37	8	2026951	2026951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:2026951C>T	uc003wpx.3	+	12	1537	c.1399C>T	c.(1399-1401)CGA>TGA	p.R467*	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	467	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGGCATCAGCCGACCCTCCAG	0.547												
ANGPT2	285	broad.mit.edu	37	8	6372234	6372234	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:6372234G>A	uc003wqj.3	-	6	1325	c.996C>T	c.(994-996)AGC>AGT	p.S332S	MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Silent_p.S331S|ANGPT2_uc010lri.2_Silent_p.S280S|ANGPT2_uc003wql.3_Silent_p.S331S	NM_001147	NP_001138	O15123	ANGP2_HUMAN	angiopoietin 2 isoform a precursor	332	Fibrinogen C-terminal.				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			upper_aerodigestive_tract(1)	1		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GAAAATCAACGCTGCCATCCT	0.443												
ANGPT2	285	broad.mit.edu	37	8	6378851	6378851	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:6378851A>G	uc003wqj.3	-	4	976	c.647T>C	c.(646-648)CTA>CCA	p.L216P	MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Missense_Mutation_p.L216P|ANGPT2_uc010lri.2_Missense_Mutation_p.L164P|ANGPT2_uc003wql.3_Missense_Mutation_p.L216P	NM_001147	NP_001138	O15123	ANGP2_HUMAN	angiopoietin 2 isoform a precursor	216	Potential.				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			upper_aerodigestive_tract(1)	1		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TAACACCTGTAGCTGATCTTT	0.363												
PRSS55	203074	broad.mit.edu	37	8	10383157	10383157	+	Missense_Mutation	SNP	G	G	A	rs148969594	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:10383157G>A	uc003wta.2	+	1	77	c.62G>A	c.(61-63)CGG>CAG	p.R21Q	uc010lru.2_Intron	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	21	Extracellular (Potential).				proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1						CTCGGTCCACGGACTCCTCTC	0.667												
AMAC1L2	83650	broad.mit.edu	37	8	11189439	11189439	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:11189439C>T	uc003wtp.1	+	1	945	c.824C>T	c.(823-825)ACC>ATC	p.T275I		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	275	DUF6 2.					integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)		TATGCGGTCACCAAGGCCCAC	0.582												
MSR1	4481	broad.mit.edu	37	8	15978090	15978090	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:15978090G>A	uc003wwz.2	-	9	1257	c.1059C>T	c.(1057-1059)GTC>GTT	p.V353V	MSR1_uc010lsu.2_Silent_p.V371V|MSR1_uc003wxa.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	353	SRCR.|Extracellular (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CGCTCCCACCGACCAGTCGAA	0.473												
NUDT18	79873	broad.mit.edu	37	8	21965652	21965652	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:21965652C>T	uc003xaq.1	-	5	487	c.368G>A	c.(367-369)CGC>CAC	p.R123H	NUDT18_uc003xar.1_3'UTR	NM_024815	NP_079091	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety	123	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding				0				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		ACCTGTGGGGCGAGCGAGGAA	0.667												
POLR3D	661	broad.mit.edu	37	8	22105771	22105771	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:22105771C>T	uc003xbl.2	+	5	549	c.466C>T	c.(466-468)CGT>TGT	p.R156C	POLR3D_uc003xbm.2_Missense_Mutation_p.R156C|POLR3D_uc011kze.1_Intron	NM_001722	NP_001713	P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	156					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity				0				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		ACAGATCTTGCGTATGCTGGA	0.502												
SLC39A14	23516	broad.mit.edu	37	8	22262311	22262311	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:22262311G>A	uc003xbq.3	+	2	263	c.88G>A	c.(88-90)GCT>ACT	p.A30T	SLC39A14_uc011kzg.1_Missense_Mutation_p.A30T|SLC39A14_uc003xbp.3_Missense_Mutation_p.A30T|SLC39A14_uc011kzh.1_Missense_Mutation_p.A30T	NM_001128431	NP_001121903	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter),	30						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity				0				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		TGAGGCTCACGCTTCATCCCT	0.582												
PDLIM2	64236	broad.mit.edu	37	8	22442669	22442669	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:22442669G>A	uc003xby.2	+	5	855	c.455G>A	c.(454-456)AGC>AAC	p.S152N	PDLIM2_uc003xbx.1_Missense_Mutation_p.S152N|PDLIM2_uc003xbz.2_Missense_Mutation_p.S152N|PDLIM2_uc003xca.2_Missense_Mutation_p.S152N|PDLIM2_uc003xcb.2_Missense_Mutation_p.S152N|PDLIM2_uc003xcc.1_Missense_Mutation_p.S152N	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 isoform 2	152	Ser-rich.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GCAGCCATCAGCCGCAGGTGA	0.672												
KIAA1967	57805	broad.mit.edu	37	8	22463638	22463638	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:22463638G>A	uc003xch.2	+	3	236	c.99G>A	c.(97-99)TTG>TTA	p.L33L	KIAA1967_uc003xci.2_Silent_p.L33L|KIAA1967_uc003xcj.1_5'Flank	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	33					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CTCCTGGTTTGCTCACTCCTC	0.547												
LOXL2	4017	broad.mit.edu	37	8	23167365	23167365	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:23167365G>A	uc003xdh.1	-	10	2035	c.1696C>T	c.(1696-1698)CGG>TGG	p.R566W	LOXL2_uc010lty.1_Missense_Mutation_p.R105W	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	566	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AACATGGGCCGGTCCTCCAGG	0.657												
NEFM	4741	broad.mit.edu	37	8	24771467	24771467	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:24771467G>A	uc003xed.3	+	1	194	c.161G>A	c.(160-162)CGC>CAC	p.R54H	NEFM_uc011lac.1_Missense_Mutation_p.R54H|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	54	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCCTATAAGCGCAGCATGCTC	0.692												
NEFM	4741	broad.mit.edu	37	8	24771944	24771944	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:24771944C>T	uc003xed.3	+	1	671	c.638C>T	c.(637-639)GCG>GTG	p.A213V	NEFM_uc011lac.1_Missense_Mutation_p.A213V|NEFM_uc010lue.2_5'Flank|uc010luc.1_Missense_Mutation_p.A42T	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	213	Rod.|Coil 1B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCGAGGAGGCGTCGCTGGTC	0.647												
DOCK5	80005	broad.mit.edu	37	8	25174531	25174531	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:25174531C>T	uc003xeg.2	+	14	1464	c.1327C>T	c.(1327-1329)CGG>TGG	p.R443W	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.R157W|DOCK5_uc003xei.2_Missense_Mutation_p.R13W	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	443	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGGAGATGTTCGGAATGACAT	0.438												
PTK2B	2185	broad.mit.edu	37	8	27308338	27308338	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:27308338C>T	uc003xfn.1	+	30	3221	c.2413C>T	c.(2413-2415)CGG>TGG	p.R805W	PTK2B_uc003xfo.1_Missense_Mutation_p.R805W|PTK2B_uc003xfp.1_Missense_Mutation_p.R805W|PTK2B_uc003xfq.1_Missense_Mutation_p.R763W|PTK2B_uc003xfs.1_Missense_Mutation_p.R2W	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	805	Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GGTCAAAATGCGGCAAATCCT	0.587												
CHRNA2	1135	broad.mit.edu	37	8	27320602	27320602	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:27320602G>A	uc010lur.2	-	6	1967	c.1358C>T	c.(1357-1359)GCT>GTT	p.A453V	CHRNA2_uc011lal.1_Missense_Mutation_p.A438V|CHRNA2_uc010lus.2_Missense_Mutation_p.A255V	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	453	Cytoplasmic.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	CTGCAGCAGAGCCTCAGCCTT	0.632												
SCARA5	286133	broad.mit.edu	37	8	27779530	27779530	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:27779530C>T	uc003xgj.2	-	4	914	c.474G>A	c.(472-474)GCG>GCA	p.A158A	SCARA5_uc010luz.2_Intron|SCARA5_uc003xgk.2_Silent_p.A115A|SCARA5_uc003xgl.2_Silent_p.A158A	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	158	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCACCGCCTGCGCCTGCAGCC	0.716												
C8orf80	389643	broad.mit.edu	37	8	27922170	27922170	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:27922170G>A	uc003xgm.3	-	7	933	c.790C>T	c.(790-792)CGC>TGC	p.R264C		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	speckled-like pattern in the germinal center	264						nucleus	GTP binding|GTPase activity			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		GGCCAGATGCGCATCTCAGCG	0.562												
INTS9	55756	broad.mit.edu	37	8	28625729	28625729	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:28625729G>A	uc003xha.2	-	17	2210	c.1911C>T	c.(1909-1911)TGC>TGT	p.C637C	INTS9_uc011lav.1_Silent_p.C613C|INTS9_uc011law.1_Silent_p.C616C|INTS9_uc011lax.1_Silent_p.C530C|INTS9_uc010lvc.2_RNA	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	637					snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CGTCATTGTCGCAGATGATAT	0.517												
DUSP26	78986	broad.mit.edu	37	8	33451249	33451249	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:33451249G>A	uc003xjp.2	-	3	571	c.238C>T	c.(238-240)CGC>TGC	p.R80C	DUSP26_uc003xjq.2_Missense_Mutation_p.R80C	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26	80	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		AGCTCCCGGCGGTTGTTAGCC	0.607												
HTRA4	203100	broad.mit.edu	37	8	38834212	38834212	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:38834212A>G	uc003xmj.2	+	3	840	c.725A>G	c.(724-726)GAT>GGT	p.D242G		NM_153692	NP_710159	P83105	HTRA4_HUMAN	HtrA serine peptidase 4 precursor	242	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GTTGTCAAGGATATTGACCTT	0.433												
ANK1	286	broad.mit.edu	37	8	41529903	41529903	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:41529903C>T	uc003xok.2	-	38	5149	c.5065G>A	c.(5065-5067)GTG>ATG	p.V1689M	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.V843M|ANK1_uc003xoi.2_Missense_Mutation_p.V1689M|ANK1_uc003xoj.2_Missense_Mutation_p.V1689M|ANK1_uc003xol.2_Missense_Mutation_p.V1527M|ANK1_uc003xom.2_Missense_Mutation_p.V1730M	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1689	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACCTGACTCACGGTGGGGGAA	0.567												
MYST3	7994	broad.mit.edu	37	8	41790996	41790996	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:41790996C>T	uc010lxb.2	-	18	5286	c.4742G>A	c.(4741-4743)AGC>AAC	p.S1581N	MYST3_uc010lxc.2_Missense_Mutation_p.S1581N|MYST3_uc003xon.3_Missense_Mutation_p.S1581N	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1581	Interaction with RUNX1-2.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CTGGGAAGAGCTGTTCCCACA	0.597												
PLAT	5327	broad.mit.edu	37	8	42037527	42037527	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:42037527C>T	uc003xos.2	-	12	1489	c.1280G>A	c.(1279-1281)CGC>CAC	p.R427H	PLAT_uc010lxf.1_Missense_Mutation_p.R344H|PLAT_uc010lxg.1_Missense_Mutation_p.R252H|PLAT_uc003xot.2_Missense_Mutation_p.R381H|PLAT_uc011lcm.1_Missense_Mutation_p.R338H|PLAT_uc011lcn.1_Missense_Mutation_p.R301H	NM_000930	NP_000921	P00750	TPA_HUMAN	plasminogen activator, tissue isoform 1	427	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|skin(1)	2	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCACACAGTGCGGACCACGCT	0.652												
DKK4	27121	broad.mit.edu	37	8	42232287	42232287	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:42232287C>T	uc003xpb.2	-	3	518	c.407G>A	c.(406-408)GGC>GAC	p.G136D		NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	dickkopf homolog 4 precursor	136					multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				ovary(1)	1	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			ACCCTTCCTGCCTTGTGATTT	0.438												
CHRNB3	1142	broad.mit.edu	37	8	42586906	42586906	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:42586906C>A	uc003xpi.1	+	5	584	c.456C>A	c.(454-456)TCC>TCA	p.S152S		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	152	Extracellular (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACAAAAGCTCCTGCACCATGG	0.532												
PRKDC	5591	broad.mit.edu	37	8	48749922	48749922	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:48749922G>A	uc003xqi.2	-	58	7669	c.7612C>T	c.(7612-7614)CGG>TGG	p.R2538W	PRKDC_uc003xqj.2_Missense_Mutation_p.R2538W|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2538	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCCAGCAACCGGTCCAAGGTA	0.368								NHEJ				
PRKDC	5591	broad.mit.edu	37	8	48852211	48852211	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:48852211A>G	uc003xqi.2	-	11	1070	c.1013T>C	c.(1012-1014)CTG>CCG	p.L338P	PRKDC_uc003xqj.2_Missense_Mutation_p.L338P|PRKDC_uc011ldh.1_Missense_Mutation_p.L338P	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	338					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAAGTACTGCAGTTTATTTTT	0.318								NHEJ				
PXDNL	137902	broad.mit.edu	37	8	52258473	52258473	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:52258473C>T	uc003xqu.3	-	20	4037	c.3936G>A	c.(3934-3936)ACG>ACA	p.T1312T	PXDNL_uc003xqt.3_Intron	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1312					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GAGACTCTTGCGTCACTGCTC	0.408												
PXDNL	137902	broad.mit.edu	37	8	52321984	52321984	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:52321984A>G	uc003xqu.3	-	17	2301	c.2200T>C	c.(2200-2202)TGC>CGC	p.C734R	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	734					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGGTTGTTGCACGTGCCGTCG	0.682												
PXDNL	137902	broad.mit.edu	37	8	52366263	52366263	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:52366263G>A	uc003xqu.3	-	10	1166	c.1065C>T	c.(1063-1065)GGC>GGT	p.G355G		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	355	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTGTGGGTGGCCTGTGGCCA	0.502												
NPBWR1	2831	broad.mit.edu	37	8	53852828	53852828	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:53852828T>A	uc011ldu.1	+	1	361	c.361T>A	c.(361-363)TTC>ATC	p.F121I		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	121	Helical; Name=3; (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GTACAACACCTTCTCCAGCCT	0.647												
PLAG1	5324	broad.mit.edu	37	8	57079998	57079998	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:57079998G>A	uc003xsq.3	-	3	758	c.307C>T	c.(307-309)CGG>TGG	p.R103W	PLAG1_uc003xsr.3_Missense_Mutation_p.R103W|PLAG1_uc010lyi.2_Missense_Mutation_p.R103W|PLAG1_uc010lyj.2_Missense_Mutation_p.R21W	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	103	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.|C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TGATCTTTCCGGTGAAACATT	0.373			T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma							
SDR16C5	195814	broad.mit.edu	37	8	57228768	57228768	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:57228768C>A	uc003xsy.1	-	2	777	c.139G>T	c.(139-141)GGT>TGT	p.G47C	SDR16C5_uc010lyk.1_Missense_Mutation_p.G47C|SDR16C5_uc010lyl.1_Missense_Mutation_p.G47C	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	epidermal retinal dehydrogenase 2	47	NAD or NADP (By similarity).				detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CTTCCAGCACCTGTGATGAGG	0.473												
CLVS1	157807	broad.mit.edu	37	8	62371019	62371019	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:62371019A>G	uc003xuh.2	+	5	1219	c.895A>G	c.(895-897)ACT>GCT	p.T299A	CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	299					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			skin(4)|ovary(1)	5						AAATGACTATACTCACACATC	0.473												
ASPH	444	broad.mit.edu	37	8	62430155	62430155	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:62430155C>T	uc003xuj.2	-	24	2327	c.2058G>A	c.(2056-2058)AGG>AGA	p.R686R	ASPH_uc011leg.1_Silent_p.R657R	NM_004318	NP_004309	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase isoform a	686	Lumenal (Potential).				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GCATTCGGAGCCTGCAGTTTG	0.522												
VCPIP1	80124	broad.mit.edu	37	8	67563711	67563711	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:67563711T>A	uc003xwn.2	-	2	3038	c.2779A>T	c.(2779-2781)ATT>TTT	p.I927F		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	927				Missing (in Ref. 3).	protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTCTTCATAATACTGTAGAAT	0.318												
ARFGEF1	10565	broad.mit.edu	37	8	68150672	68150672	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:68150672T>C	uc003xxo.1	-	22	3585	c.3195A>G	c.(3193-3195)AAA>AAG	p.K1065K	ARFGEF1_uc003xxl.1_Silent_p.K519K|ARFGEF1_uc003xxn.1_Silent_p.K48K	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1065					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGTATCGAGGTTTCACTCCAG	0.403												
SULF1	23213	broad.mit.edu	37	8	70515459	70515459	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:70515459C>T	uc010lza.1	+	11	1811	c.1094C>T	c.(1093-1095)GCC>GTC	p.A365V	SULF1_uc003xyd.2_Missense_Mutation_p.A365V|SULF1_uc003xye.2_Missense_Mutation_p.A365V|SULF1_uc003xyf.2_Missense_Mutation_p.A365V|SULF1_uc003xyg.2_Missense_Mutation_p.A365V|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	365					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATTGACTTGGCCCCCACGATC	0.542												
LY96	23643	broad.mit.edu	37	8	74903730	74903730	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:74903730C>A	uc003yad.2	+	1	144	c.53C>A	c.(52-54)GCT>GAT	p.A18D		NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	MD-2 protein precursor	18					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding				0	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TTTACTGAAGCTCAGAAGCAG	0.358												
JPH1	56704	broad.mit.edu	37	8	75227797	75227797	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:75227797G>A	uc003yae.2	-	2	478	c.438C>T	c.(436-438)AGC>AGT	p.S146S	JPH1_uc003yaf.2_Silent_p.S146S|JPH1_uc003yag.1_Silent_p.S10S	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	146	Cytoplasmic (Potential).|MORN 5.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CGTAGGGCACGCTCTGGCGCA	0.687												
ZFHX4	79776	broad.mit.edu	37	8	77766906	77766906	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:77766906C>T	uc003yav.2	+	10	8001	c.7614C>T	c.(7612-7614)GAC>GAT	p.D2538D	ZFHX4_uc003yau.1_Silent_p.D2583D|ZFHX4_uc003yaw.1_Silent_p.D2538D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2538						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAAACTAGACGATAAAGAAG	0.507										HNSCC(33;0.089)		
ZFHX4	79776	broad.mit.edu	37	8	77768043	77768043	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:77768043A>G	uc003yav.2	+	10	9138	c.8751A>G	c.(8749-8751)TTA>TTG	p.L2917L	ZFHX4_uc003yau.1_Silent_p.L2962L|ZFHX4_uc003yaw.1_Silent_p.L2917L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2917	Homeobox 4.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTGAAATGTTAGGGAATGAGA	0.423										HNSCC(33;0.089)		
ZFHX4	79776	broad.mit.edu	37	8	77768387	77768387	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:77768387C>T	uc003yav.2	+	10	9482	c.9095C>T	c.(9094-9096)ACG>ATG	p.T3032M	ZFHX4_uc003yau.1_Missense_Mutation_p.T3077M|ZFHX4_uc003yaw.1_Missense_Mutation_p.T3032M	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3032						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T3061M(1)		ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTGGGCTTGACGGTACAGCAG	0.577										HNSCC(33;0.089)		
CA13	377677	broad.mit.edu	37	8	86171741	86171741	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:86171741A>G	uc003ydg.2	+	3	669	c.327A>G	c.(325-327)ATA>ATG	p.I109M	CA13_uc003ydf.1_RNA	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	109					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0						CCGAGCACATAGTAGATGGAG	0.498												
CPNE3	8895	broad.mit.edu	37	8	87568519	87568519	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:87568519G>A	uc003ydv.2	+	16	1606	c.1444G>A	c.(1444-1446)GCC>ACC	p.A482T	CPNE3_uc003ydw.1_Missense_Mutation_p.A198T	NM_003909	NP_003900	O75131	CPNE3_HUMAN	copine III	482	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			ovary(1)|skin(1)	2						GGGCGAAGTGGCCATCAGAGA	0.483												
RUNX1T1	862	broad.mit.edu	37	8	92998411	92998411	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:92998411C>T	uc003yfd.2	-	8	1304	c.1220G>A	c.(1219-1221)GGC>GAC	p.G407D	RUNX1T1_uc003yfc.1_Missense_Mutation_p.G380D|RUNX1T1_uc003yfe.1_Missense_Mutation_p.G370D|RUNX1T1_uc010mao.2_Missense_Mutation_p.G380D|RUNX1T1_uc011lgi.1_Missense_Mutation_p.G418D|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.G370D	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	407					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCTGCTACTGCCGCCACCTTT	0.502												
RUNX1T1	862	broad.mit.edu	37	8	92999191	92999191	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:92999191C>T	uc003yfd.2	-	7	1085	c.1001G>A	c.(1000-1002)GGC>GAC	p.G334D	RUNX1T1_uc003yfc.1_Missense_Mutation_p.G307D|RUNX1T1_uc003yfe.1_Missense_Mutation_p.G297D|RUNX1T1_uc010mao.2_Missense_Mutation_p.G307D|RUNX1T1_uc011lgi.1_Missense_Mutation_p.G345D|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.G297D	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	334					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTGACGTGTGCCATGCAACCC	0.418												
RBM12B	389677	broad.mit.edu	37	8	94745716	94745716	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:94745716T>C	uc003yfz.2	-	3	3116	c.2923A>G	c.(2923-2925)AAC>GAC	p.N975D		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	975	RRM 4.						nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCATTATAGTTTATCATAGCA	0.378												
TMEM67	91147	broad.mit.edu	37	8	94767147	94767147	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:94767147C>T	uc011lgk.1	+	1	76	c.5C>T	c.(4-6)GCG>GTG	p.A2V	TMEM67_uc010mau.2_Missense_Mutation_p.A2V|TMEM67_uc010mav.2_Missense_Mutation_p.A2V|TMEM67_uc010mat.1_Intron|TMEM67_uc010maw.2_Missense_Mutation_p.A2V|TMEM67_uc003yga.3_Intron	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	2					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GGTACCATGGCGACGCGCGGT	0.652												
POP1	10940	broad.mit.edu	37	8	99149119	99149119	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:99149119G>A	uc003yij.3	+	9	1399	c.1299G>A	c.(1297-1299)CGG>CGA	p.R433R	POP1_uc011lgv.1_Silent_p.R433R|POP1_uc003yik.2_Silent_p.R433R	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	433					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ACAGATTCCGGCTGATTGGGC	0.398												
NIPAL2	79815	broad.mit.edu	37	8	99264772	99264772	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:99264772C>T	uc003yil.1	-	3	551	c.295G>A	c.(295-297)GTG>ATG	p.V99M	NIPAL2_uc011lgw.1_5'Flank|NIPAL2_uc003yim.1_Missense_Mutation_p.V99M	NM_024759	NP_079035	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	99	Helical; (Potential).					integral to membrane					0						GTCTCTCCCACGGCCATCAGC	0.498												
KCNS2	3788	broad.mit.edu	37	8	99441079	99441079	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:99441079G>A	uc003yin.2	+	2	1222	c.872G>A	c.(871-873)GGC>GAC	p.G291D		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	291	Extracellular (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GCCAACTTGGGCAGGGTGGCC	0.557												
STK3	6788	broad.mit.edu	37	8	99539030	99539030	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:99539030A>G	uc003yip.2	-	10	1398	c.1257T>C	c.(1255-1257)CCT>CCC	p.P419P	STK3_uc003yio.2_Silent_p.P447P	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3	419					apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TTTTGGACATAGGGAAGGGTT	0.353												
VPS13B	157680	broad.mit.edu	37	8	100831680	100831680	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:100831680A>G	uc003yiv.2	+	48	8848	c.8737A>G	c.(8737-8739)ACA>GCA	p.T2913A	VPS13B_uc003yiw.2_Missense_Mutation_p.T2888A	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2913					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCCATCTCAACATCCCTCAT	0.373												
FBXO43	286151	broad.mit.edu	37	8	101154026	101154026	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:101154026A>G	uc003yjd.2	-	2	1169	c.456T>C	c.(454-456)TGT>TGC	p.C152C	FBXO43_uc003yje.2_Silent_p.C118C|FBXO43_uc010mbp.1_Silent_p.C152C	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	152					meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TGCGAGGTAAACATTTTTTCC	0.348												
RNF19A	25897	broad.mit.edu	37	8	101300184	101300184	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:101300184C>T	uc003yjj.1	-	3	536	c.219G>A	c.(217-219)AGG>AGA	p.R73R	RNF19A_uc003yjk.1_Silent_p.R73R|RNF19A_uc003yjl.1_Silent_p.R73R	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	ring finger protein 19	73					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TATCTTTTTTCCTCCGAAACA	0.403												
KLF10	7071	broad.mit.edu	37	8	103663818	103663818	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:103663818C>T	uc011lhk.1	-	3	896	c.742G>A	c.(742-744)GTG>ATG	p.V248M	KLF10_uc011lhj.1_Missense_Mutation_p.V237M	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Kruppel-like factor 10 isoform a	248					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TGTGGGGACACAGGGGCTGGC	0.542											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LRP12	29967	broad.mit.edu	37	8	105601078	105601078	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:105601078C>T	uc003yma.2	-	1	143	c.48G>A	c.(46-48)GCG>GCA	p.A16A	LRP12_uc003ymb.2_Silent_p.A16A|LRP12_uc003ymc.3_Silent_p.A16A	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	16					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCAAGAGCAACGCAGACCTCC	0.522												
ZFPM2	23414	broad.mit.edu	37	8	106813943	106813943	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:106813943C>T	uc003ymd.2	+	8	1656	c.1633C>T	c.(1633-1635)CCC>TCC	p.P545S	ZFPM2_uc011lhs.1_Missense_Mutation_p.P276S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	545					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCTTTGATGCCCAAGGGGGC	0.448												
OXR1	55074	broad.mit.edu	37	8	107718739	107718739	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:107718739T>C	uc011lht.1	+	8	1092	c.993T>C	c.(991-993)ACT>ACC	p.T331T	OXR1_uc003ymf.2_Silent_p.T330T|OXR1_uc011lhu.1_Silent_p.T323T|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Silent_p.T28T|OXR1_uc003ymg.1_Silent_p.T263T|OXR1_uc003ymi.1_Silent_p.T242T	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	331					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CTAGGAGCACTGAGGAGTCTC	0.433												
DSCC1	79075	broad.mit.edu	37	8	120865336	120865336	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:120865336G>A	uc003yov.2	-	2	437	c.302C>T	c.(301-303)CCG>CTG	p.P101L		NM_024094	NP_076999	Q9BVC3	DCC1_HUMAN	defective in sister chromatid cohesion 1	101					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			pancreas(1)	1	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CAACTGGTCCGGAGTTTTACA	0.383												
DEPDC6	64798	broad.mit.edu	37	8	121021305	121021305	+	Missense_Mutation	SNP	G	G	A	rs147712866	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:121021305G>A	uc003yow.3	+	8	1221	c.1034G>A	c.(1033-1035)CGA>CAA	p.R345Q	DEPDC6_uc011lid.1_Missense_Mutation_p.R244Q	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	345	PDZ.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTGTGGTGCGAGGAAGTAAG	0.517												
SNTB1	6641	broad.mit.edu	37	8	121644750	121644750	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:121644750C>T	uc010mdg.2	-	3	1156	c.930G>A	c.(928-930)GAG>GAA	p.E310E	SNTB1_uc003ype.2_Silent_p.E310E	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	310					muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TCCCCAGCTGCTCTCTGACCT	0.527												
ZHX2	22882	broad.mit.edu	37	8	123965085	123965085	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:123965085G>T	uc003ypk.1	+	3	1902	c.1335G>T	c.(1333-1335)AAG>AAT	p.K445N		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	445	Required for interaction with NFYA.|Homeobox 2.|Required for repressor activity.|Required for nuclear localization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GTGACCGCAAGAAGACAAAGG	0.617												
FBXO32	114907	broad.mit.edu	37	8	124515635	124515635	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:124515635A>G	uc003yqr.2	-	9	1238	c.1046T>C	c.(1045-1047)TTT>TCT	p.F349S	FBXO32_uc003yqq.2_Missense_Mutation_p.F204S|FBXO32_uc010mdk.2_Missense_Mutation_p.F256S|uc003yqp.1_5'Flank	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	F-box only protein 32 isoform 1	349										skin(3)|breast(2)|lung(1)	6	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAAGTTGATAAAGTCCTGGGG	0.493												
ANXA13	312	broad.mit.edu	37	8	124714888	124714888	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:124714888G>A	uc003yqu.2	-	3	253	c.180C>T	c.(178-180)TAC>TAT	p.Y60Y	ANXA13_uc003yqt.2_Silent_p.Y101Y	NM_004306	NP_004297	P27216	ANX13_HUMAN	annexin A13 isoform a	60	Annexin 1.				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TCACCTTGCCGTACGTTGCCT	0.507												
FER1L6	654463	broad.mit.edu	37	8	124992883	124992883	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:124992883A>T	uc003yqw.2	+	11	1448	c.1242A>T	c.(1240-1242)AAA>AAT	p.K414N		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	414	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGGAATCTAAATTTTCCAAGG	0.453											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FER1L6	654463	broad.mit.edu	37	8	125113580	125113580	+	Splice_Site	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:125113580G>A	uc003yqw.2	+	38	5331	c.5125_splice	c.e38+1	p.G1709_splice	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6							integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GACTTCCTGGGTAAGCCAGTG	0.383												
NDUFB9	4715	broad.mit.edu	37	8	125562077	125562077	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:125562077G>A	uc003yrg.3	+	4	569	c.484G>A	c.(484-486)GAT>AAT	p.D162N	NDUFB9_uc011lim.1_Intron	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	162					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			ovary(1)|skin(1)	2	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	AAAGGAAGGTGATTTGCCCCC	0.517												
KIAA0196	9897	broad.mit.edu	37	8	126049532	126049532	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:126049532T>C	uc003yrt.2	-	26	3457	c.3128A>G	c.(3127-3129)AAC>AGC	p.N1043S	KIAA0196_uc011lir.1_Missense_Mutation_p.N895S|KIAA0196_uc003yru.1_Missense_Mutation_p.N617S	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	1043					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAATAGAAAGTTTACAATTGG	0.318												
ADCY8	114	broad.mit.edu	37	8	131964196	131964196	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:131964196T>C	uc003ytd.3	-	3	1415	c.1159A>G	c.(1159-1161)ATC>GTC	p.I387V	ADCY8_uc010mds.2_Missense_Mutation_p.I387V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	387	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATGTCGTTGATCATTTCCAGG	0.527										HNSCC(32;0.087)		
ADCY8	114	broad.mit.edu	37	8	132052023	132052023	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:132052023T>C	uc003ytd.3	-	1	813	c.557A>G	c.(556-558)AAC>AGC	p.N186S	ADCY8_uc010mds.2_Missense_Mutation_p.N186S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	186	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTCCAGCACGTTCATCACCAC	0.567										HNSCC(32;0.087)		
PHF20L1	51105	broad.mit.edu	37	8	133854953	133854953	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:133854953C>T	uc003ytt.2	+	19	2906	c.2581C>T	c.(2581-2583)CAT>TAT	p.H861Y	PHF20L1_uc011lja.1_Missense_Mutation_p.H835Y	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	861							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AACAAGTGAGCATAGCTATCA	0.393												
TG	7038	broad.mit.edu	37	8	133883650	133883650	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:133883650G>A	uc003ytw.2	+	4	373	c.332G>A	c.(331-333)AGC>AAC	p.S111N		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	111	Thyroglobulin type-1 2.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TACATTAACAGCACAGACACC	0.507												
ZFAT	57623	broad.mit.edu	37	8	135613725	135613725	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:135613725T>C	uc003yup.2	-	6	2412	c.2237A>G	c.(2236-2238)TAC>TGC	p.Y746C	ZFAT_uc003yun.2_Missense_Mutation_p.Y734C|ZFAT_uc003yuo.2_Missense_Mutation_p.Y734C|ZFAT_uc010meh.2_Missense_Mutation_p.Y734C|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.Y734C|ZFAT_uc010mej.2_Missense_Mutation_p.Y684C|ZFAT_uc003yur.2_Missense_Mutation_p.Y734C	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	746	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTACCACAGTATTCACACTC	0.498												
KCNK9	51305	broad.mit.edu	37	8	140631269	140631269	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:140631269C>T	uc003yvf.1	-	2	421	c.357G>A	c.(355-357)CCG>CCA	p.P119P	KCNK9_uc003yvg.1_Silent_p.P119P|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	119	Helical; (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CCAGTGTCAGCGGGATGCCCA	0.592												
TRAPPC9	83696	broad.mit.edu	37	8	140744288	140744288	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:140744288G>A	uc003yvj.2	-	22	3347	c.3213C>T	c.(3211-3213)GGC>GGT	p.G1071G	TRAPPC9_uc003yvh.2_Silent_p.G1169G	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	1071					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						AGTTGTGCACGCCGTTCTGGT	0.682												
EIF2C2	27161	broad.mit.edu	37	8	141549445	141549445	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:141549445G>A	uc003yvn.2	-	16	2183	c.2143C>T	c.(2143-2145)CTC>TTC	p.L715F	EIF2C2_uc010men.2_Missense_Mutation_p.L638F|EIF2C2_uc010meo.2_Missense_Mutation_p.L715F	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	715	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GTGCAGAAGAGCCGGGTGTGG	0.592												
EIF2C2	27161	broad.mit.edu	37	8	141567236	141567236	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:141567236T>C	uc003yvn.2	-	8	1018	c.978A>G	c.(976-978)CCA>CCG	p.P326P	EIF2C2_uc010men.2_Silent_p.P249P|EIF2C2_uc010meo.2_Silent_p.P326P	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	326	PAZ.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CTTGTAAACATGGGAGGTGGG	0.612												
DENND3	22898	broad.mit.edu	37	8	142151330	142151330	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:142151330C>T	uc003yvy.2	+	4	568	c.290C>T	c.(289-291)ACG>ATG	p.T97M	DENND3_uc003yvw.1_Missense_Mutation_p.T110M|DENND3_uc003yvx.2_Missense_Mutation_p.R176C|DENND3_uc010mep.2_Missense_Mutation_p.T110M	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	97										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AATGGCAAAACGCACCGGGAG	0.532												
ZNF696	79943	broad.mit.edu	37	8	144378556	144378556	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:144378556C>T	uc003yxy.3	+	3	1120	c.711C>T	c.(709-711)TAC>TAT	p.Y237Y		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	237	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGAGGCTGTACGCGTGCGGCG	0.726												
NAPRT1	93100	broad.mit.edu	37	8	144657425	144657425	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:144657425T>C	uc003yym.3	-	11	1407	c.1382A>G	c.(1381-1383)GAG>GGG	p.E461G	C8orf73_uc010mff.2_5'Flank|C8orf73_uc010mfg.1_5'Flank|NAPRT1_uc003yyn.3_Missense_Mutation_p.E461G|NAPRT1_uc011lkh.1_Missense_Mutation_p.E461G|NAPRT1_uc003yyo.3_Missense_Mutation_p.E461G	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain	461					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGTGCAGGGCTCCTGGGCCCC	0.677												
EPPK1	83481	broad.mit.edu	37	8	144940342	144940342	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:144940342G>A	uc003zaa.1	-	2	15103	c.15090C>T	c.(15088-15090)GAC>GAT	p.D5030D		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	5030	Plectin 64.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTAGGCCACGTCCACGGGCA	0.692												
EPPK1	83481	broad.mit.edu	37	8	144940610	144940610	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:144940610A>G	uc003zaa.1	-	2	14835	c.14822T>C	c.(14821-14823)TTC>TCC	p.F4941S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	4941	Plectin 62.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCGATGACGAAGCCGGTGGC	0.716												
EPPK1	83481	broad.mit.edu	37	8	144941902	144941902	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:144941902C>T	uc003zaa.1	-	1	5533	c.5520G>A	c.(5518-5520)ACG>ACA	p.T1840T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1840						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTGGTTTTGCGTCTCTGTTT	0.542												
PLEC	5339	broad.mit.edu	37	8	144990789	144990789	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:144990789G>A	uc003zaf.1	-	32	13781	c.13611C>T	c.(13609-13611)CCC>CCT	p.P4537P	PLEC_uc003zab.1_Silent_p.P4400P|PLEC_uc003zac.1_Silent_p.P4404P|PLEC_uc003zad.2_Silent_p.P4400P|PLEC_uc003zae.1_Silent_p.P4368P|PLEC_uc003zag.1_Silent_p.P4378P|PLEC_uc003zah.2_Silent_p.P4386P|PLEC_uc003zaj.2_Silent_p.P4427P	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4537	Plectin 32.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCGGCGTGTCGGGCTCGATCA	0.706												
PLEC	5339	broad.mit.edu	37	8	144990949	144990949	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:144990949T>C	uc003zaf.1	-	32	13621	c.13451A>G	c.(13450-13452)GAC>GGC	p.D4484G	PLEC_uc003zab.1_Missense_Mutation_p.D4347G|PLEC_uc003zac.1_Missense_Mutation_p.D4351G|PLEC_uc003zad.2_Missense_Mutation_p.D4347G|PLEC_uc003zae.1_Missense_Mutation_p.D4315G|PLEC_uc003zag.1_Missense_Mutation_p.D4325G|PLEC_uc003zah.2_Missense_Mutation_p.D4333G|PLEC_uc003zaj.2_Missense_Mutation_p.D4374G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4484	Globular 2.|Plectin 31.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GTTGATGCGGTCCACCATGAT	0.657												
PLEC	5339	broad.mit.edu	37	8	144999695	144999695	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:144999695G>A	uc003zaf.1	-	31	4983	c.4813C>T	c.(4813-4815)CGT>TGT	p.R1605C	PLEC_uc003zab.1_Missense_Mutation_p.R1468C|PLEC_uc003zac.1_Missense_Mutation_p.R1472C|PLEC_uc003zad.2_Missense_Mutation_p.R1468C|PLEC_uc003zae.1_Missense_Mutation_p.R1436C|PLEC_uc003zag.1_Missense_Mutation_p.R1446C|PLEC_uc003zah.2_Missense_Mutation_p.R1454C|PLEC_uc003zaj.2_Missense_Mutation_p.R1495C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1605	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCCCCGCCACGCTGGCGCTCG	0.731												
PARP10	84875	broad.mit.edu	37	8	145057704	145057704	+	Missense_Mutation	SNP	G	G	T	rs146044528	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:145057704G>T	uc003zal.3	-	8	2161	c.2053C>A	c.(2053-2055)CTC>ATC	p.L685I	PARP10_uc003zak.3_Missense_Mutation_p.L382I|PARP10_uc011lku.1_Missense_Mutation_p.L697I|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.L676I	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	685	Glu-rich.|Ubiquitin-interacting.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCAGGGAGAGGGTTAGGGCT	0.677												
CYC1	1537	broad.mit.edu	37	8	145150773	145150773	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:145150773G>A	uc003zaz.3	+	2	210	c.167G>A	c.(166-168)GGC>GAC	p.G56D	CYC1_uc003zay.2_5'UTR	NM_001916	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	56					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTTCCCGAGGCCGGAAAGTG	0.652											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF517	340385	broad.mit.edu	37	8	146033597	146033597	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:146033597G>A	uc003zed.1	+	5	1403	c.1296G>A	c.(1294-1296)GCG>GCA	p.A432A	ZNF517_uc010mgd.1_Silent_p.A338A|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Silent_p.A338A|ZNF517_uc003zef.1_Intron	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	432	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GCGGCAAGGCGTTCCGCAGGA	0.667												
ZNF16	7564	broad.mit.edu	37	8	146156380	146156380	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:146156380T>C	uc003zet.2	-	4	1980	c.1793A>G	c.(1792-1794)GAA>GGA	p.E598G	ZNF16_uc003zeu.2_Missense_Mutation_p.E598G	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GTAGGGTTTTTCCCCAGTATG	0.488												
ZNF16	7564	broad.mit.edu	37	8	146156435	146156435	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:146156435T>C	uc003zet.2	-	4	1925	c.1738A>G	c.(1738-1740)AAA>GAA	p.K580E	ZNF16_uc003zeu.2_Missense_Mutation_p.K580E	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	580	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TTGAAGGCTTTACCACACTGG	0.463												
SMARCA2	6595	broad.mit.edu	37	9	2039678	2039678	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:2039678A>G	uc003zhc.2	+	4	667	c.568A>G	c.(568-570)AAA>GAA	p.K190E	SMARCA2_uc003zhd.2_Missense_Mutation_p.K190E|SMARCA2_uc010mha.2_Missense_Mutation_p.K181E	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	190					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TTTAGCTTATAAAATGCTGGC	0.512												
SMARCA2	6595	broad.mit.edu	37	9	2191331	2191331	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:2191331G>T	uc003zhc.2	+	33	4759	c.4660G>T	c.(4660-4662)GGC>TGC	p.G1554C	SMARCA2_uc003zhd.2_Missense_Mutation_p.G1536C|SMARCA2_uc010mha.2_Missense_Mutation_p.G1469C|SMARCA2_uc011llw.1_Missense_Mutation_p.G240C|SMARCA2_uc003zhf.2_Missense_Mutation_p.G218C|SMARCA2_uc011llx.1_Missense_Mutation_p.G200C|SMARCA2_uc003zhe.2_Missense_Mutation_p.G242C|SMARCA2_uc003zhg.2_Missense_Mutation_p.G200C|SMARCA2_uc010mhb.2_Missense_Mutation_p.G224C	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1554					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CAAAGGGAAAGGCAAGAAAAG	0.438												
KCNV2	169522	broad.mit.edu	37	9	2718806	2718806	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:2718806C>T	uc003zho.1	+	1	1281	c.1067C>T	c.(1066-1068)ACG>ATG	p.T356M		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	356	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		GAGTGCTTCACGGGCGAGGGC	0.672												
GLIS3	169792	broad.mit.edu	37	9	4117916	4117916	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:4117916A>G	uc003zhw.1	-	3	1291	c.1097T>C	c.(1096-1098)ATC>ACC	p.I366T	GLIS3_uc003zhx.1_Missense_Mutation_p.I521T|GLIS3_uc003zic.1_Missense_Mutation_p.I521T|GLIS3_uc003zie.1_Missense_Mutation_p.I521T|GLIS3_uc010mhh.1_Missense_Mutation_p.I396T|GLIS3_uc003zid.1_Missense_Mutation_p.I299T|GLIS3_uc010mhi.1_Missense_Mutation_p.I328T|GLIS3_uc003zif.1_Missense_Mutation_p.I299T|GLIS3_uc003zig.1_Missense_Mutation_p.I365T|GLIS3_uc003zih.1_Missense_Mutation_p.I299T|GLIS3_uc003zhy.1_Missense_Mutation_p.I299T|GLIS3_uc003zhz.1_Missense_Mutation_p.I299T|GLIS3_uc003zib.1_Missense_Mutation_p.I365T|GLIS3_uc010mhg.1_Missense_Mutation_p.I299T	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	366	C2H2-type 1.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GACCTTCTCGATGTGCCGCAC	0.617												
MPDZ	8777	broad.mit.edu	37	9	13183417	13183417	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:13183417C>A	uc010mia.1	-	18	2706	c.2649G>T	c.(2647-2649)AAG>AAT	p.K883N	MPDZ_uc010mhy.2_Missense_Mutation_p.K883N|MPDZ_uc010mhz.2_Missense_Mutation_p.K883N|MPDZ_uc011lmn.1_Missense_Mutation_p.K883N|MPDZ_uc003zlb.3_Missense_Mutation_p.K883N	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	883					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		TCCTTTGTACCTTAGGAGGAG	0.408												
C9orf93	203238	broad.mit.edu	37	9	15744460	15744460	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:15744460G>A	uc003zmd.2	+	17	2554	c.2239G>A	c.(2239-2241)GCC>ACC	p.A747T	C9orf93_uc010mih.1_Missense_Mutation_p.A755T|C9orf93_uc003zme.2_Missense_Mutation_p.A662T|C9orf93_uc011lmu.1_Missense_Mutation_p.A755T|C9orf93_uc003zmf.1_Missense_Mutation_p.A55T	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	747											0				GBM - Glioblastoma multiforme(50;4.84e-07)		CCGATCATGCGCCTTGTCTAC	0.458												
BNC2	54796	broad.mit.edu	37	9	16436034	16436034	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:16436034G>A	uc003zml.2	-	6	2298	c.2158C>T	c.(2158-2160)CGG>TGG	p.R720W	BNC2_uc011lmw.1_Missense_Mutation_p.R625W|BNC2_uc003zmm.2_Missense_Mutation_p.R678W|BNC2_uc003zmq.1_Missense_Mutation_p.R734W|BNC2_uc003zmr.1_Missense_Mutation_p.R757W|BNC2_uc003zmp.1_Missense_Mutation_p.R748W|BNC2_uc010mij.1_Missense_Mutation_p.R642W|BNC2_uc011lmv.1_Missense_Mutation_p.R546W|BNC2_uc003zmo.1_Missense_Mutation_p.R642W|BNC2_uc003zmj.2_Missense_Mutation_p.R485W|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.R485W|BNC2_uc003zmn.1_Missense_Mutation_p.R485W	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	720					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		TCATAGTCCCGCTCAGGTTCT	0.502												
CNTLN	54875	broad.mit.edu	37	9	17464498	17464498	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:17464498A>G	uc003zmz.2	+	21	3431	c.3405A>G	c.(3403-3405)ATA>ATG	p.I1135M	CNTLN_uc003zmy.2_Missense_Mutation_p.I1136M|CNTLN_uc010mio.2_Missense_Mutation_p.I815M	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1136	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		TTTCAAGGATATCTCGAATGG	0.303												
ADAMTSL1	92949	broad.mit.edu	37	9	18721613	18721613	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:18721613C>T	uc003zne.3	+	15	2083	c.1956C>T	c.(1954-1956)CGC>CGT	p.R652R		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	652	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		TGACCAGCCGCCGGCCCCCAC	0.602												
PLIN2	123	broad.mit.edu	37	9	19116264	19116264	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:19116264A>G	uc003zno.2	-	8	1475	c.1296T>C	c.(1294-1296)TCT>TCC	p.S432S	PLIN2_uc011lna.1_Silent_p.S404S	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	adipose differentiation-related protein	432					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				ovary(2)	2						TTTTATGCTCAGATCGCTGGG	0.488												
KIAA1797	54914	broad.mit.edu	37	9	20990121	20990121	+	Splice_Site	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:20990121G>T	uc003zog.1	+	44	5368	c.5005_splice	c.e44-1	p.A1669_splice	KIAA1797_uc003zoh.1_Splice_Site_p.A1105_splice	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914							integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		TTTCATCGTAGGCTTTGGACT	0.468												
IFNW1	3467	broad.mit.edu	37	9	21141078	21141078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:21141078C>T	uc003zol.1	-	1	1067	c.492G>A	c.(490-492)TGG>TGA	p.W164*		NM_002177	NP_002168	P05000	IFNW1_HUMAN	interferon, omega 1 precursor	164					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding				0				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGACAACTTCCCAGGCACAGT	0.448												
CDKN2A	1029	broad.mit.edu	37	9	21970981	21970981	+	Missense_Mutation	SNP	A	A	T	rs104894098		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:21970981A>T	uc003zpk.2	-	2	589	c.377T>A	c.(376-378)GTC>GAC	p.V126D	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	126	ANK 4.		V -> D (in CMM2; impairs the function).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.V126V(2)|p.V126F(2)|p.A118fs*10(1)|p.V126I(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTACCGTGCGACATCGCGATG	0.701		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)		
LRRC19	64922	broad.mit.edu	37	9	26998170	26998170	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:26998170T>A	uc003zqh.2	-	3	262	c.151A>T	c.(151-153)ATA>TTA	p.I51L	IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron	NM_022901	NP_075052	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19 precursor	51	Extracellular (Potential).|LRR 1.					integral to membrane					0		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		AGATCAAGTATAGTAACATCT	0.299												
AQP3	360	broad.mit.edu	37	9	33442199	33442199	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:33442199G>A	uc003zsx.2	-	6	783	c.721C>T	c.(721-723)CAT>TAT	p.H241Y	SUGT1P1_uc010mjq.1_Intron|AQP3_uc003zsv.1_3'UTR|AQP3_uc003zsw.2_Missense_Mutation_p.H85Y|AQP3_uc010mju.2_Missense_Mutation_p.A168V	NM_004925	NP_004916	Q92482	AQP3_HUMAN	aquaporin 3	241	Extracellular (Potential).				excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		CACCACCAATGCTGGCCGGTC	0.662												
DCAF12	25853	broad.mit.edu	37	9	34098434	34098434	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:34098434C>T	uc003ztt.2	-	5	1025	c.683G>A	c.(682-684)CGG>CAG	p.R228Q		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	228						centrosome|CUL4 RING ubiquitin ligase complex					0						CACAGGGACCCGTGACACATT	0.517												
DNAI1	27019	broad.mit.edu	37	9	34500820	34500820	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:34500820C>A	uc003zum.2	+	11	1195	c.1002C>A	c.(1000-1002)TCC>TCA	p.S334S		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	334					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AGCGCCTGTCCGTCACTGCCC	0.532									Kartagener_syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CNTFR	1271	broad.mit.edu	37	9	34568917	34568917	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:34568917G>A	uc003zup.1	-	3	344	c.63C>T	c.(61-63)TAC>TAT	p.Y21Y	CNTFR_uc003zuq.1_Silent_p.Y21Y|LOC415056_uc003zut.2_Intron|LOC415056_uc003zur.2_Intron|LOC415056_uc003zus.2_Intron	NM_147164	NP_671693	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	21					nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			ovary(3)|central_nervous_system(1)|skin(1)	5	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GTCTCTGGGCGTAGACAACTG	0.657												
PIGO	84720	broad.mit.edu	37	9	35091771	35091771	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:35091771G>A	uc003zwd.2	-	7	2509	c.2113C>T	c.(2113-2115)CGC>TGC	p.R705C	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.R268C	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	705	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGTCCCCAGCGCACAAAGAGC	0.647												
KIAA1539	80256	broad.mit.edu	37	9	35107521	35107521	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:35107521G>A	uc003zwl.2	-	3	1076	c.751C>T	c.(751-753)CCA>TCA	p.P251S	KIAA1539_uc003zwm.2_Missense_Mutation_p.P251S|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Missense_Mutation_p.P251S|KIAA1539_uc003zwp.1_Missense_Mutation_p.P251S|KIAA1539_uc010mkk.1_RNA	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	251						nucleus				ovary(2)	2	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTGACATCTGGGGCTTCTCCA	0.672												
RUSC2	9853	broad.mit.edu	37	9	35546612	35546612	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:35546612G>T	uc003zww.2	+	2	349	c.94G>T	c.(94-96)GGG>TGG	p.G32W	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.G32W	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	32						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GTGCTGTGGAGGGGCAGGTGG	0.587												
FAM166B	730112	broad.mit.edu	37	9	35562663	35562663	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:35562663C>T	uc010mkr.2	-	4	598	c.527G>A	c.(526-528)CGG>CAG	p.R176Q	FAM166B_uc011lov.1_Missense_Mutation_p.G187R|FAM166B_uc011low.1_Missense_Mutation_p.R176Q|FAM166B_uc003zwy.2_Missense_Mutation_p.R176Q	NM_001164310	NP_001157782	A8MTA8	F166B_HUMAN	hypothetical protein LOC730112 isoform 1	176											0						GAAGAACTTCCGAGGGTCCCT	0.587												
CA9	768	broad.mit.edu	37	9	35676366	35676366	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:35676366G>A	uc003zxo.3	+	5	862	c.820G>A	c.(820-822)GTG>ATG	p.V274M	C9orf100_uc003zxl.2_5'Flank|CA9_uc003zxp.3_Missense_Mutation_p.V274M	NM_001216	NP_001207	Q16790	CAH9_HUMAN	carbonic anhydrase IX precursor	274	Extracellular.|Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			ovary(4)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGCCTGGCCGTGTTGGCCGC	0.637												
TMEM8B	51754	broad.mit.edu	37	9	35846850	35846850	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:35846850C>T	uc003zym.2	+	11	1692	c.677C>T	c.(676-678)GCG>GTG	p.A226V	TMEM8B_uc003zyk.2_Missense_Mutation_p.A226V|TMEM8B_uc003zyl.2_Missense_Mutation_p.A393V|TMEM8B_uc003zyn.2_Silent_p.C121C|TMEM8B_uc003zyo.2_Missense_Mutation_p.A226V	NM_001042589	NP_001036054	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B isoform a	226	Extracellular (Potential).				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			ovary(1)	1						AGTGCAGATGCGCTCACCTAT	0.597												
GNE	10020	broad.mit.edu	37	9	36246457	36246457	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:36246457G>A	uc010mlh.2	-	3	402	c.187C>T	c.(187-189)CAA>TAA	p.Q63*	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Nonsense_Mutation_p.Q63*|GNE_uc011lpl.1_Nonsense_Mutation_p.Q4*|GNE_uc010mli.2_Nonsense_Mutation_p.Q94*|GNE_uc010mlj.2_Nonsense_Mutation_p.Q58*	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	63	UDP-N-acetylglucosamine 2-epimerase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)			AAGTCATCTTGTTCAATCATT	0.433												
ZBTB5	9925	broad.mit.edu	37	9	37442190	37442190	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:37442190G>A	uc003zzx.2	-	2	559	c.359C>T	c.(358-360)ACG>ATG	p.T120M		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CGTCCTTGTCGTTAAGTAATG	0.532												
POLR1E	64425	broad.mit.edu	37	9	37503056	37503056	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:37503056A>G	uc003zzz.1	+	11	1591	c.1303A>G	c.(1303-1305)AAA>GAA	p.K435E	POLR1E_uc003zzy.1_Missense_Mutation_p.K373E|POLR1E_uc011lqk.1_Missense_Mutation_p.K302E|uc004aaa.2_5'Flank	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN	RNA polymerase I associated factor 53	435					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding				0				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		GGAGATAGCCAAAGCCATGAG	0.532												
FBXO10	26267	broad.mit.edu	37	9	37521665	37521665	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:37521665C>T	uc004aab.2	-	8	2150	c.2101G>A	c.(2101-2103)GCC>ACC	p.A701T	FBXO10_uc004aac.2_Missense_Mutation_p.A717T|FBXO10_uc004aad.2_Missense_Mutation_p.A251T	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	701						ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		CAGAGGATGGCGTCCCCATCC	0.552												
ALDH1B1	219	broad.mit.edu	37	9	38396150	38396150	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:38396150C>T	uc004aay.2	+	2	517	c.405C>T	c.(403-405)TAC>TAT	p.Y135Y		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	135					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			skin(1)	1				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	AAGAGTCTTACGCCTTGGACT	0.562												
TJP2	9414	broad.mit.edu	37	9	71854958	71854958	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:71854958G>A	uc004ahe.2	+	17	2661	c.2461G>A	c.(2461-2463)GTC>ATC	p.V821I	TJP2_uc011lrs.1_Missense_Mutation_p.V798I|TJP2_uc011lrt.1_Missense_Mutation_p.V798I|TJP2_uc004ahd.2_Missense_Mutation_p.V821I|TJP2_uc004ahf.2_Missense_Mutation_p.V821I|TJP2_uc011lru.1_Missense_Mutation_p.V825I|TJP2_uc011lrv.1_Missense_Mutation_p.V843I	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	821	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						CAGACAAGGTGTCAAAACCAT	0.418												
TJP2	9414	broad.mit.edu	37	9	71869217	71869217	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:71869217G>A	uc004ahe.2	+	23	3700	c.3500G>A	c.(3499-3501)CGC>CAC	p.R1167H	TJP2_uc011lrs.1_Missense_Mutation_p.R997H|TJP2_uc004ahf.2_Missense_Mutation_p.R1020H|TJP2_uc011lru.1_Missense_Mutation_p.R1134H|TJP2_uc011lrv.1_Missense_Mutation_p.R1189H|TJP2_uc010mom.1_3'UTR	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	1167				EYR -> IRS (in Ref. 8; AAB41794).	cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						GAGGAGTACCGCCAGCAGCTG	0.547												
TRPM3	80036	broad.mit.edu	37	9	73151350	73151350	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:73151350G>A	uc004aid.2	-	25	4887	c.4643C>T	c.(4642-4644)ACA>ATA	p.T1548I	TRPM3_uc004ahu.2_Missense_Mutation_p.T1390I|TRPM3_uc004ahv.2_Missense_Mutation_p.T1350I|TRPM3_uc004ahw.2_Missense_Mutation_p.T1420I|TRPM3_uc004ahx.2_Missense_Mutation_p.T1407I|TRPM3_uc004ahy.2_Missense_Mutation_p.T1410I|TRPM3_uc004ahz.2_Missense_Mutation_p.T1397I|TRPM3_uc004aia.2_Missense_Mutation_p.T1395I|TRPM3_uc004aib.2_Missense_Mutation_p.T1385I|TRPM3_uc004aic.2_Intron	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1573	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						AATACAGTCTGTAATACTTGT	0.463												
PRUNE2	158471	broad.mit.edu	37	9	79259732	79259732	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:79259732G>A	uc010mpk.2	-	12	8775	c.8651C>T	c.(8650-8652)ACA>ATA	p.T2884I	PRUNE2_uc011lsk.1_Missense_Mutation_p.T133I|PRUNE2_uc011lsl.1_Missense_Mutation_p.T148I|PRUNE2_uc011lsm.1_Missense_Mutation_p.T149I|PRUNE2_uc004akj.3_Missense_Mutation_p.T338I|PRUNE2_uc010mpl.1_Missense_Mutation_p.T338I	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2884					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						AATGACCACTGTCCTCCAAAG	0.512												
TLE1	7088	broad.mit.edu	37	9	84208020	84208020	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:84208020T>C	uc004aly.2	-	15	1942	c.1501A>G	c.(1501-1503)ACA>GCA	p.T501A	TLE1_uc004alz.2_Missense_Mutation_p.T511A|TLE1_uc011lsr.1_Missense_Mutation_p.T486A|TLE1_uc004ama.1_Missense_Mutation_p.T500A	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	501	WD 1.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						TTCCCGCCTGTGTACACGTGT	0.617												
RASEF	158158	broad.mit.edu	37	9	85611951	85611951	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:85611951T>C	uc004amo.1	-	14	2157	c.1896A>G	c.(1894-1896)ATA>ATG	p.I632M		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	632					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						CCCATTCTCGTATGTTAAGAA	0.373												
GOLM1	51280	broad.mit.edu	37	9	88692475	88692475	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:88692475C>T	uc004aol.2	-	3	359	c.161G>A	c.(160-162)CGC>CAC	p.R54H	GOLM1_uc010mqd.1_RNA|GOLM1_uc004aom.2_Missense_Mutation_p.R54H	NM_016548	NP_057632	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	54	Potential.|Lumenal (Potential).					Golgi apparatus|integral to plasma membrane					0						AGCCGCCCTGCGGACCCTGCC	0.607												
SEMA4D	10507	broad.mit.edu	37	9	92006274	92006274	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:92006274C>T	uc004aqo.1	-	11	1251	c.679G>A	c.(679-681)GAG>AAG	p.E227K	SEMA4D_uc011ltm.1_Missense_Mutation_p.E227K|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.E225K	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	227	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						CTGTCATCCTCGCCGTCGGGG	0.537												
ZNF169	169841	broad.mit.edu	37	9	97062526	97062526	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:97062526G>A	uc004aum.1	+	5	791	c.686G>A	c.(685-687)AGC>AAC	p.S229N		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	229						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				AGCCTGTTCAGCCACCAGAAG	0.507												
FBP2	8789	broad.mit.edu	37	9	97346939	97346939	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:97346939C>T	uc004auv.2	-	3	413	c.346G>A	c.(346-348)GTC>ATC	p.V116I		NM_003837	NP_003828	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	116					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)				TCAAAGCAGACCACGTATTTC	0.488												
PTCH1	5727	broad.mit.edu	37	9	98231260	98231260	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:98231260A>G	uc004avk.3	-	14	2211	c.2023T>C	c.(2023-2025)TAC>CAC	p.Y675H	PTCH1_uc010mro.2_Missense_Mutation_p.Y524H|PTCH1_uc010mrp.2_Missense_Mutation_p.Y524H|PTCH1_uc010mrq.2_Missense_Mutation_p.Y524H|PTCH1_uc004avl.3_Missense_Mutation_p.Y524H|PTCH1_uc010mrr.2_Missense_Mutation_p.Y609H|PTCH1_uc004avm.3_Missense_Mutation_p.Y674H|PTCH1_uc010mrs.1_Missense_Mutation_p.Y343H	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	675	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTGGTGTAGTACACGTGCGTG	0.627									Basal_Cell_Nevus_syndrome			
TDRD7	23424	broad.mit.edu	37	9	100240782	100240782	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:100240782C>T	uc004axj.2	+	13	2453	c.2228C>T	c.(2227-2229)ACA>ATA	p.T743I	TDRD7_uc011lux.1_Missense_Mutation_p.T669I|TDRD7_uc010msp.1_5'UTR|TDRD7_uc011luy.1_Missense_Mutation_p.T63I	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	743	Tudor 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)				GGCACTGTGACATCTGTAAAA	0.433												
XPA	7507	broad.mit.edu	37	9	100456035	100456035	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:100456035G>T	uc004axr.3	-	2	296	c.179C>A	c.(178-180)GCT>GAT	p.A60D	XPA_uc004axs.3_RNA	NM_000380	NP_000371	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	60	Interaction with CEP164 and required for UV resistance.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)	1		Acute lymphoblastic leukemia(62;0.158)				TTTTACATTAGCCATGCCTAC	0.338			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum			
FOXE1	2304	broad.mit.edu	37	9	100617187	100617187	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:100617187G>A	uc004axu.2	+	1	1651	c.991G>A	c.(991-993)GGC>AGC	p.G331S		NM_004473	NP_004464	O00358	FOXE1_HUMAN	forkhead box E1	331					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		Acute lymphoblastic leukemia(62;0.158)				CACGTCGCCCGGCCAGTTCGG	0.736												
TMEFF1	8577	broad.mit.edu	37	9	103204337	103204337	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:103204337G>A	uc004bay.1	+	1	150	c.117G>A	c.(115-117)GCG>GCA	p.A39A	C9orf30_uc004baw.2_Silent_p.A39A|C9orf30_uc004bax.2_RNA	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two	Error:Variant_position_missing_in_Q8IYR6_after_alignment					multicellular organismal development	integral to membrane|plasma membrane					0		Acute lymphoblastic leukemia(62;0.0452)				AAAGTGATGCGCGAACTATTG	0.463												
RNF20	56254	broad.mit.edu	37	9	104309176	104309176	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:104309176G>A	uc004bbn.2	+	7	912	c.822G>A	c.(820-822)CTG>CTA	p.L274L		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	274	Potential.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TTGATGACCTGCAGTGGGATA	0.468												
ABCA1	19	broad.mit.edu	37	9	107602587	107602587	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:107602587C>T	uc004bcl.2	-	9	1340	c.1027G>A	c.(1027-1029)GCT>ACT	p.A343T		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	343	Extracellular.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAGGTTTCAGCATCTTCCTCA	0.547												
ZNF462	58499	broad.mit.edu	37	9	109689017	109689017	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:109689017C>T	uc004bcz.2	+	3	3113	c.2824C>T	c.(2824-2826)CCA>TCA	p.P942S	ZNF462_uc010mto.2_Missense_Mutation_p.P790S|ZNF462_uc004bda.2_Missense_Mutation_p.P790S	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	942	C2H2-type 9.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AAGCCTGATGCCACATTACCA	0.478												
ZNF462	58499	broad.mit.edu	37	9	109690913	109690913	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:109690913T>C	uc004bcz.2	+	3	5009	c.4720T>C	c.(4720-4722)TAT>CAT	p.Y1574H	ZNF462_uc010mto.2_Missense_Mutation_p.Y1422H|ZNF462_uc004bda.2_Missense_Mutation_p.Y1422H	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1574					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						CAAGCAAGGGTATGGCGCCTA	0.498												
ACTL7A	10881	broad.mit.edu	37	9	111625537	111625537	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:111625537G>A	uc004bdj.1	+	1	935	c.935G>A	c.(934-936)TGC>TAC	p.C312Y		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	312						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						ATTCAGCTGTGCCAGGAACGG	0.552												
IKBKAP	8518	broad.mit.edu	37	9	111673454	111673454	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:111673454A>G	uc004bdm.3	-	12	1716	c.1196T>C	c.(1195-1197)GTG>GCG	p.V399A	IKBKAP_uc004bdl.2_Missense_Mutation_p.V50A|IKBKAP_uc011lwc.1_Missense_Mutation_p.V285A|IKBKAP_uc010mtq.2_Missense_Mutation_p.V50A	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	399					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						TGTCACCAACACCCTGTCTGC	0.448												
IKBKAP	8518	broad.mit.edu	37	9	111674645	111674645	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:111674645C>T	uc004bdm.3	-	11	1608	c.1088G>A	c.(1087-1089)TGT>TAT	p.C363Y	IKBKAP_uc004bdl.2_Missense_Mutation_p.C14Y|IKBKAP_uc011lwc.1_Missense_Mutation_p.C249Y|IKBKAP_uc010mtq.2_Missense_Mutation_p.C14Y	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	363					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						CCAGCCCTGACAGAGAACATG	0.512												
EPB41L4B	54566	broad.mit.edu	37	9	111970203	111970203	+	Splice_Site	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:111970203C>T	uc004bdz.1	-	18	2173	c.1878_splice	c.e18+1	p.Q626_splice		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B							cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						ATTCTGCGCACCTGGATGTTC	0.438												
SVEP1	79987	broad.mit.edu	37	9	113217886	113217886	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:113217886G>A	uc010mtz.2	-	22	4108	c.3771C>T	c.(3769-3771)TGC>TGT	p.C1257C	SVEP1_uc010mua.1_Silent_p.C1257C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1257	EGF-like 2; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						AACCTGATGGGCACTCACAAA	0.403												
KIAA0368	23392	broad.mit.edu	37	9	114131334	114131334	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:114131334C>T	uc004bfe.1	-	47	5628	c.5628G>A	c.(5626-5628)CCG>CCA	p.P1876P		NM_001080398	NP_001073867			KIAA0368 protein												0						CCGCGTTTCGCGGCCAGGCTT	0.473												
KIAA0368	23392	broad.mit.edu	37	9	114145514	114145514	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:114145514G>A	uc004bfe.1	-	36	4314	c.4314C>T	c.(4312-4314)ACC>ACT	p.T1438T		NM_001080398	NP_001073867			KIAA0368 protein												0						CTTCCGTCACGGTGCTCATCA	0.483												
KIAA0368	23392	broad.mit.edu	37	9	114246712	114246712	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:114246712C>T	uc004bfe.1	-	2	201	c.201G>A	c.(199-201)GCG>GCA	p.A67A	KIAA0368_uc010muc.1_5'Flank	NM_001080398	NP_001073867			KIAA0368 protein												0						CCCCGCCCTGCGCCTCCCGCC	0.701												
ZNF618	114991	broad.mit.edu	37	9	116750619	116750619	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:116750619C>T	uc004bid.2	+	3	195	c.96C>T	c.(94-96)AGC>AGT	p.S32S	ZNF618_uc004bib.1_Silent_p.S32S|ZNF618_uc004bic.2_Silent_p.S32S|ZNF618_uc011lxi.1_Silent_p.S32S|ZNF618_uc011lxj.1_Silent_p.S32S	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGAAGCGCAGCCAGAAGAGCA	0.597												
ZNF618	114991	broad.mit.edu	37	9	116811006	116811006	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:116811006G>T	uc004bid.2	+	15	1523	c.1424G>T	c.(1423-1425)AGG>ATG	p.R475M	ZNF618_uc004bic.2_Missense_Mutation_p.R382M|ZNF618_uc011lxi.1_Missense_Mutation_p.R442M|ZNF618_uc011lxj.1_Missense_Mutation_p.R443M|ZNF618_uc010mvb.2_Missense_Mutation_p.R65M	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGGCTGTTGAGGGTCATGTGT	0.582												
COL27A1	85301	broad.mit.edu	37	9	117050991	117050991	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:117050991G>T	uc011lxl.1	+	43	4054	c.4054G>T	c.(4054-4056)GGT>TGT	p.G1352C	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1352	Collagen-like 12.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						GGGCCCTGTGGGTGATCGAGG	0.627												
TNC	3371	broad.mit.edu	37	9	117852871	117852871	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:117852871C>A	uc004bjj.3	-	2	789	c.427G>T	c.(427-429)GGA>TGA	p.G143*	TNC_uc010mvf.2_Nonsense_Mutation_p.G143*	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	143	Potential.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CAGCCTGCTCCTGCAGTACAT	0.592												
PAPPA	5069	broad.mit.edu	37	9	118950086	118950086	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:118950086G>A	uc004bjn.2	+	2	1450	c.1069G>A	c.(1069-1071)GTG>ATG	p.V357M	PAPPA_uc011lxp.1_Missense_Mutation_p.V150M|PAPPA_uc011lxq.1_Missense_Mutation_p.V150M	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	357	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						GCGCTACCGCGTGGTCAACCT	0.552												
ASTN2	23245	broad.mit.edu	37	9	119188190	119188190	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:119188190C>T	uc004bjs.1	-	23	4061	c.3960G>A	c.(3958-3960)ACG>ACA	p.T1320T	ASTN2_uc004bjr.1_Silent_p.T1316T|ASTN2_uc004bjt.1_Silent_p.T1269T|ASTN2_uc004bjp.1_Silent_p.T413T|ASTN2_uc004bjq.1_Silent_p.T372T|ASTN2_uc011lxr.1_Silent_p.T372T|ASTN2_uc011lxs.1_Silent_p.T372T|ASTN2_uc011lxt.1_Silent_p.T372T|ASTN2_uc004bjo.1_Silent_p.T101T	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	1320	Extracellular (Potential).			T -> M (in Ref. 3; AAH29272).		integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						TCTCCTCACACGTGATTTTGG	0.582												
ASTN2	23245	broad.mit.edu	37	9	119903695	119903695	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:119903695G>A	uc004bjs.1	-	4	1179	c.1078C>T	c.(1078-1080)CGC>TGC	p.R360C	ASTN2_uc004bjr.1_Missense_Mutation_p.R360C|ASTN2_uc004bjt.1_Intron	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	360	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GTGTTAGCGCGGAAACTCTCC	0.592												
ASTN2	23245	broad.mit.edu	37	9	120053672	120053672	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:120053672G>A	uc004bjs.1	-	2	664	c.563C>T	c.(562-564)GCC>GTC	p.A188V	ASTN2_uc004bjr.1_Missense_Mutation_p.A188V|ASTN2_uc004bjt.1_Missense_Mutation_p.A188V	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	188	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GAGAGTGGGGGCGGTGGCTTG	0.612												
TLR4	7099	broad.mit.edu	37	9	120476762	120476762	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:120476762T>C	uc004bjz.2	+	3	2647	c.2356T>C	c.(2356-2358)TAC>CAC	p.Y786H	TLR4_uc004bka.2_Missense_Mutation_p.Y746H|TLR4_uc004bkb.2_Missense_Mutation_p.Y586H	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	786	Cytoplasmic (Potential).|TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						GGTGGAGCTGTACCGCCTTCT	0.557												
PSMD5	5711	broad.mit.edu	37	9	123595605	123595605	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:123595605G>T	uc004bko.2	-	2	322	c.303C>A	c.(301-303)ATC>ATA	p.I101I	PSMD5_uc011lye.1_Silent_p.I101I	NM_005047	NP_005038	Q16401	PSMD5_HUMAN	proteasome 26S non-ATPase subunit 5	101					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding				0						AAAGAGTGAGGATTTTTACAG	0.348												
TRAF1	7185	broad.mit.edu	37	9	123671571	123671571	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:123671571C>T	uc004bku.1	-	7	1541	c.969G>A	c.(967-969)TCG>TCA	p.S323S	TRAF1_uc011lyg.1_Silent_p.S201S|TRAF1_uc010mvl.1_Silent_p.S323S	NM_005658	NP_005649	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	323	MATH.				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			skin(2)|ovary(1)	3						CGATGAAGAGCGACAGATGGG	0.527												
C5	727	broad.mit.edu	37	9	123783955	123783955	+	Silent	SNP	C	C	T	rs148479499	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:123783955C>T	uc004bkv.2	-	11	1164	c.1134G>A	c.(1132-1134)TCG>TCA	p.S378S	C5_uc010mvm.1_Silent_p.S378S|C5_uc010mvn.1_Silent_p.S378S	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	378					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ACTGGTCAAGCGAATCTTTAA	0.383												
DAB2IP	153090	broad.mit.edu	37	9	124535231	124535231	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:124535231C>A	uc004bln.2	+	12	2409	c.2340C>A	c.(2338-2340)ACC>ACA	p.T780T	DAB2IP_uc004blo.2_Silent_p.T684T|DAB2IP_uc004blp.2_Silent_p.T213T	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	808					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						AGACACCAACCACACCAGGCA	0.726												
OR1B1	347169	broad.mit.edu	37	9	125391289	125391289	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:125391289C>T	uc011lyz.1	-	1	526	c.526G>A	c.(526-528)GGC>AGC	p.G176S		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B,	176	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTAACGTTGCCCCCAGCATCC	0.537												
OR1K1	392392	broad.mit.edu	37	9	125562731	125562731	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:125562731A>G	uc011lze.1	+	1	330	c.330A>G	c.(328-330)GTA>GTG	p.V110V		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CCCTGGGGGTAACTGATAGCT	0.597												
ZBTB6	10773	broad.mit.edu	37	9	125674193	125674193	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:125674193A>G	uc004bnh.2	-	2	248	c.159T>C	c.(157-159)GCT>GCC	p.A53A		NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	53	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAGTGGAGCAAGCAGCCAAAA	0.373												
RABGAP1	23637	broad.mit.edu	37	9	125761008	125761008	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:125761008G>A	uc011lzh.1	+	10	1471	c.1337G>A	c.(1336-1338)CGT>CAT	p.R446H	RABGAP1_uc004bnl.3_RNA	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	446					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						TTCAGCAAACGTAGTACTACT	0.383												
RABGAP1	23637	broad.mit.edu	37	9	125839022	125839022	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:125839022A>T	uc011lzh.1	+	19	2539	c.2405A>T	c.(2404-2406)GAA>GTA	p.E802V	RABGAP1_uc004bnl.3_RNA|RABGAP1_uc011lzj.1_Missense_Mutation_p.E141V	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	802	Potential.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						AAACTAATGGAATTAGCCTGC	0.338												
CRB2	286204	broad.mit.edu	37	9	126134517	126134517	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:126134517G>A	uc004bnx.1	+	9	2590	c.2498G>A	c.(2497-2499)TGC>TAC	p.C833Y	CRB2_uc004bnw.1_Missense_Mutation_p.C833Y	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	833	Extracellular (Potential).|EGF-like 11.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CACTGTACCTGCCCTGCCAAT	0.622												
LHX2	9355	broad.mit.edu	37	9	126777648	126777648	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:126777648G>A	uc004boe.1	+	3	1310	c.571G>A	c.(571-573)GCT>ACT	p.A191T	LHX2_uc010mwi.1_Missense_Mutation_p.A199T	NM_004789	NP_004780	P50458	LHX2_HUMAN	LIM homeobox protein 2	191	Poly-Ala.			AAA -> RAR (in Ref. 1).		nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGCGGCGGCCGCTGCAGCCGC	0.687												
MAPKAP1	79109	broad.mit.edu	37	9	128246828	128246828	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:128246828C>T	uc004bpv.2	-	9	1434	c.1101G>A	c.(1099-1101)TCG>TCA	p.S367S	MAPKAP1_uc011lzt.1_Silent_p.S170S|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Silent_p.S170S|MAPKAP1_uc011lzv.1_Silent_p.S75S|MAPKAP1_uc004bpw.2_Silent_p.S175S|MAPKAP1_uc004bpx.2_Silent_p.S175S|MAPKAP1_uc004bpy.2_Silent_p.S331S|MAPKAP1_uc004bpz.2_Intron|MAPKAP1_uc010mxa.2_RNA	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	367					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			ovary(2)|lung(2)	4						TGTCAATTTGCGAATCCTCCT	0.458												
FAM125B	89853	broad.mit.edu	37	9	129102803	129102803	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:129102803C>A	uc004bqh.1	+	2	179	c.98C>A	c.(97-99)CCT>CAT	p.P33H	FAM125B_uc004bqg.1_Missense_Mutation_p.P33H|FAM125B_uc011lzy.1_Missense_Mutation_p.P18H	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	hypothetical protein LOC89853 isoform 1	33					protein transport	late endosome membrane					0						TCCACCATGCCTGAAGTCAAA	0.463												
ZBTB43	23099	broad.mit.edu	37	9	129595580	129595580	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:129595580C>T	uc004bql.2	+	3	1065	c.792C>T	c.(790-792)TAC>TAT	p.Y264Y	ZBTB43_uc010mxf.2_Silent_p.Y264Y	NM_014007	NP_054726	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ACGCGACCTACGACGAGCACC	0.587												
RALGPS1	9649	broad.mit.edu	37	9	129796780	129796780	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:129796780G>A	uc004bqo.1	+	5	554	c.287G>A	c.(286-288)CGG>CAG	p.R96Q	RALGPS1_uc011mab.1_Missense_Mutation_p.R96Q|RALGPS1_uc011mac.1_Missense_Mutation_p.R96Q|RALGPS1_uc004bqq.3_Missense_Mutation_p.R96Q	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	96	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1						GCCTTTACCCGGAGGTTTAAC	0.527												
SLC2A8	29988	broad.mit.edu	37	9	130167203	130167203	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:130167203A>G	uc004bqu.2	+	8	1128	c.1083A>G	c.(1081-1083)GCA>GCG	p.A361A	SLC2A8_uc010mxj.2_Silent_p.A361A|SLC2A8_uc004bqv.2_Silent_p.A33A	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose	361	Extracellular (Potential).					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						CTGTCTCTGCACAGCCTGTTG	0.662												
STXBP1	6812	broad.mit.edu	37	9	130438929	130438929	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:130438929C>T	uc004brl.2	+	15	1453	c.1256C>T	c.(1255-1257)ACG>ATG	p.T419M	STXBP1_uc004brk.2_Missense_Mutation_p.T419M	NM_001032221	NP_001027392	P61764	STXB1_HUMAN	syntaxin binding protein 1 isoform b	419					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			skin(1)	1						TCAGGCATCACGGAGGAAAAC	0.597												
FPGS	2356	broad.mit.edu	37	9	130566653	130566653	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:130566653G>T	uc004bsg.1	+	2	278	c.228G>T	c.(226-228)TTG>TTT	p.L76F	FPGS_uc004bsf.1_RNA|FPGS_uc004bsh.1_5'UTR|FPGS_uc011mal.1_Missense_Mutation_p.L76F|FPGS_uc004bsi.1_Missense_Mutation_p.L26F	NM_004957	NP_004948	Q05932	FOLC_HUMAN	folylpolyglutamate synthase isoform a precursor	76					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity				0					L-Glutamic Acid(DB00142)	AGACACAGTTGGAAGCCATGG	0.612												
ST6GALNAC6	30815	broad.mit.edu	37	9	130649057	130649057	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:130649057G>A	uc004bso.1	-	7	942	c.823C>T	c.(823-825)CGC>TGC	p.R275C	ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.R241C|ST6GALNAC6_uc011man.1_Missense_Mutation_p.R75C|ST6GALNAC6_uc004bsp.1_Silent_p.P273P|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.R241C|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.R241C|ST6GALNAC6_uc010mxp.1_RNA	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN	sialytransferase 7F	275	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane|plasma membrane					0						CGCTGGAGGCGGGGCCGCTGG	0.363												
PKN3	29941	broad.mit.edu	37	9	131477738	131477738	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:131477738A>G	uc004bvw.2	+	15	2200	c.1807A>G	c.(1807-1809)AGC>GGC	p.S603G	PKN3_uc010myh.2_Missense_Mutation_p.S603G|PKN3_uc011mbk.1_Missense_Mutation_p.S153G	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	603	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			stomach(2)|lung(2)	4						CGAGATAGAGAGGTGTGTGGG	0.622												
ZER1	10444	broad.mit.edu	37	9	131516110	131516110	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:131516110T>C	uc004bwa.1	-	3	720	c.287A>G	c.(286-288)GAC>GGC	p.D96G		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	96					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						GGCCTCCAGGTCCTGGTCCTG	0.677												
C9orf114	51490	broad.mit.edu	37	9	131588873	131588873	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:131588873T>C	uc004bwd.2	-	5	430	c.404A>G	c.(403-405)AAG>AGG	p.K135R	C9orf114_uc004bwe.2_Missense_Mutation_p.K135R|C9orf114_uc010mym.2_RNA	NM_016390	NP_057474	Q5T280	CI114_HUMAN	hypothetical protein LOC51490	135											0						CGCCTGCCCCTTCTTCCCAAC	0.587												
NUP188	23511	broad.mit.edu	37	9	131715088	131715088	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:131715088C>T	uc004bws.1	+	3	146	c.124C>T	c.(124-126)CGA>TGA	p.R42*	NUP188_uc004bwq.1_Nonsense_Mutation_p.R44*	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	42					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						ACATTGGCGGCGATTGTTAGA	0.363												
NUP188	23511	broad.mit.edu	37	9	131733113	131733113	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:131733113G>A	uc004bws.1	+	11	1011	c.989G>A	c.(988-990)CGT>CAT	p.R330H		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	330					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						GCTCTCCTCCGTCACACTCTG	0.502												
TOR1B	27348	broad.mit.edu	37	9	132569623	132569623	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:132569623G>A	uc004byk.1	+	3	682	c.622G>A	c.(622-624)GCC>ACC	p.A208T		NM_014506	NP_055321	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B) precursor	208					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding				0		Ovarian(14;0.0586)				TTACCGCAAAGCCATCTTCAT	0.488												
PPAPDC3	84814	broad.mit.edu	37	9	134183546	134183546	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:134183546G>A	uc004cal.2	+	2	992	c.688G>A	c.(688-690)GTG>ATG	p.V230M		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	230	Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CCTGTCCCGCGTGATGATCGG	0.667												
BAT2L1	84726	broad.mit.edu	37	9	134323116	134323116	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:134323116C>T	uc004can.3	+	8	1100	c.1045C>T	c.(1045-1047)CGG>TGG	p.R349W	BAT2L1_uc010mzj.1_Translation_Start_Site	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	349							protein binding				0						GCGGGCACCACGGCCCACCAT	0.552												
RAPGEF1	2889	broad.mit.edu	37	9	134473641	134473641	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:134473641T>G	uc004cbc.2	-	13	2130	c.2000A>C	c.(1999-2001)GAG>GCG	p.E667A	RAPGEF1_uc004cbb.2_Missense_Mutation_p.E685A|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Missense_Mutation_p.E842A|RAPGEF1_uc004cbd.2_Missense_Mutation_p.E672A|RAPGEF1_uc010mzs.1_Missense_Mutation_p.E199A|RAPGEF1_uc010mzl.1_Missense_Mutation_p.E165A|RAPGEF1_uc010mzo.1_3'UTR|RAPGEF1_uc010mzp.1_Missense_Mutation_p.E144A|RAPGEF1_uc010mzq.1_Missense_Mutation_p.E251A|RAPGEF1_uc010mzr.1_Missense_Mutation_p.E252A	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	667					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GAGGGACAGCTCGTCCACTTC	0.587												
NTNG2	84628	broad.mit.edu	37	9	135073695	135073695	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:135073695T>C	uc004cbh.2	+	3	1332	c.556T>C	c.(556-558)TCA>CCA	p.S186P		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	186	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCGCGACATGTCATCCTCCAG	0.672												
SETX	23064	broad.mit.edu	37	9	135153636	135153636	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:135153636C>A	uc004cbk.2	-	21	6846	c.6663G>T	c.(6661-6663)CAG>CAT	p.Q2221H	SETX_uc004cbj.2_Missense_Mutation_p.Q1840H|SETX_uc010mzt.2_Missense_Mutation_p.Q1840H	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2221					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGCCATACTCCTGTGCTTTCT	0.413												
C9orf98	158067	broad.mit.edu	37	9	135690031	135690031	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:135690031T>G	uc004cbu.1	-	10	1529	c.973A>C	c.(973-975)ATG>CTG	p.M325L	C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Missense_Mutation_p.M121L	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	putative adenylate kinase-like protein C9orf98	325	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)		CTACCTGCCATCTCCTTTTCA	0.517												
GTF3C5	9328	broad.mit.edu	37	9	135919143	135919143	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:135919143G>A	uc004cci.3	+	3	739	c.402G>A	c.(400-402)GTG>GTA	p.V134V	GTF3C5_uc010mzz.2_Silent_p.V9V|GTF3C5_uc004ccj.3_Silent_p.V134V	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	134						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		ACTTGGCTGTGCATACGGAAG	0.562												
CEL	1056	broad.mit.edu	37	9	135945943	135945943	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:135945943A>G	uc010naa.1	+	10	1407	c.1391A>G	c.(1390-1392)TAC>TGC	p.Y464C		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	461					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GACATTCAGTACGTTTTCGGG	0.582												
GBGT1	26301	broad.mit.edu	37	9	136030623	136030623	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:136030623G>A	uc004ccw.2	-	6	582	c.301C>T	c.(301-303)CAG>TAG	p.Q101*	RALGDS_uc011mcw.1_Missense_Mutation_p.A113V|GBGT1_uc004ccx.2_Nonsense_Mutation_p.Q54*|GBGT1_uc010nab.2_Missense_Mutation_p.A113V|GBGT1_uc011mcx.1_Nonsense_Mutation_p.Q84*|GBGT1_uc010nac.1_5'UTR|GBGT1_uc004ccy.1_Nonsense_Mutation_p.Q101*	NM_021996	NP_068836	Q8N5D6	GBGT1_HUMAN	globoside	101	Lumenal (Potential).				carbohydrate metabolic process|glycolipid biosynthetic process	Golgi membrane|integral to membrane	metal ion binding				0				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		TAGATGTGCTGCAGAAGCTCT	0.637												
MED22	6837	broad.mit.edu	37	9	136208462	136208462	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:136208462G>T	uc004cdc.2	-	5	730	c.496C>A	c.(496-498)CTC>ATC	p.L166I	MED22_uc004cdd.2_3'UTR	NM_133640	NP_598395	Q15528	MED22_HUMAN	mediator complex subunit 22 isoform b	166					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		GGGGCCGAGAGGCCATCAGCA	0.642												
ADAMTS13	11093	broad.mit.edu	37	9	136302896	136302896	+	Missense_Mutation	SNP	G	G	A	rs147201977	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:136302896G>A	uc004cdv.3	+	13	1907	c.1463G>A	c.(1462-1464)CGG>CAG	p.R488Q	ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.R488Q|ADAMTS13_uc004cdu.1_Missense_Mutation_p.R457Q|ADAMTS13_uc004cdw.3_Missense_Mutation_p.R488Q|ADAMTS13_uc004cdx.3_Missense_Mutation_p.R457Q|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Missense_Mutation_p.R158Q|ADAMTS13_uc004cds.1_Intron|ADAMTS13_uc004cdr.1_RNA	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	488					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CACATGTGCCGGGCCATTGGC	0.637												
ADAMTS13	11093	broad.mit.edu	37	9	136305465	136305465	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:136305465C>T	uc004cdv.3	+	16	2231	c.1787C>T	c.(1786-1788)GCG>GTG	p.A596V	ADAMTS13_uc004cdp.3_5'UTR|ADAMTS13_uc004cdt.1_Missense_Mutation_p.A596V|ADAMTS13_uc004cdu.1_Missense_Mutation_p.A565V|ADAMTS13_uc004cdw.3_Missense_Mutation_p.A596V|ADAMTS13_uc004cdx.3_Missense_Mutation_p.A565V|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Missense_Mutation_p.A266V|ADAMTS13_uc004cds.1_Missense_Mutation_p.A121V|ADAMTS13_uc004cdr.1_RNA	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	596	Spacer.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TCCCCGACAGCGGTGAGGATC	0.622												
ADAMTSL2	9719	broad.mit.edu	37	9	136406103	136406103	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:136406103G>A	uc011mdl.1	+	7	1219	c.662G>A	c.(661-663)CGC>CAC	p.R221H	ADAMTSL2_uc004cei.2_Missense_Mutation_p.R221H	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	221					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GGCAACTATCGCAAGGGGAAT	0.473												
SARDH	1757	broad.mit.edu	37	9	136573438	136573438	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:136573438G>A	uc004cep.3	-	11	1575	c.1441C>T	c.(1441-1443)CGC>TGC	p.R481C	SARDH_uc004ceo.2_Missense_Mutation_p.R481C|SARDH_uc011mdn.1_Missense_Mutation_p.R481C|SARDH_uc011mdo.1_Missense_Mutation_p.R313C	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	481					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CTCATGTTGCGCCCGGCCAGC	0.662												
VAV2	7410	broad.mit.edu	37	9	136726543	136726543	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:136726543C>T	uc004ces.2	-	3	379	c.333G>A	c.(331-333)GCG>GCA	p.A111A	VAV2_uc004cer.2_Silent_p.A111A	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	111	CH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	p.A111V(1)		central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GCCTCGACACCGCGGAGATGA	0.577												
BRD3	8019	broad.mit.edu	37	9	136913300	136913300	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:136913300C>T	uc004cew.2	-	6	1179	c.991G>A	c.(991-993)GCC>ACC	p.A331T	BRD3_uc004cex.2_Missense_Mutation_p.A331T	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	331	Bromo 2.					nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AAGGGCCAGGCGTAGGCCGCG	0.612			T	NUT|C15orf55	lethal midline carcinoma of young people							
FCN2	2220	broad.mit.edu	37	9	137775200	137775200	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:137775200C>T	uc004cfg.1	+	3	277	c.267C>T	c.(265-267)AAC>AAT	p.N89N	FCN2_uc004cfh.1_Silent_p.N51N	NM_004108	NP_004099	Q15485	FCN2_HUMAN	ficolin 2 isoform a precursor	89	Collagen-like.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			large_intestine(1)	1		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CTGGGCCCAACGGTAAGGAGG	0.617												
KCNT1	57582	broad.mit.edu	37	9	138678159	138678159	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:138678159C>T	uc011mdq.1	+	29	3368	c.3294C>T	c.(3292-3294)GAC>GAT	p.D1098D	KCNT1_uc011mdr.1_Silent_p.D925D|KCNT1_uc010nbf.2_Silent_p.D1053D|KCNT1_uc004cgo.1_3'UTR	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1098						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCGGCGGTGACCCCGCAGAGC	0.746												
UBAC1	10422	broad.mit.edu	37	9	138830129	138830129	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:138830129A>G	uc004cgt.2	-	9	1259	c.1041T>C	c.(1039-1041)TTT>TTC	p.F347F	UBAC1_uc004cgs.1_Silent_p.F347F|UBAC1_uc004cgu.2_RNA	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	ubiquitin associated domain containing 1	347						Golgi apparatus|plasma membrane	protein binding			skin(2)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		GGATGGCCTGAAAGAGAGGAC	0.592												
SDCCAG3	10807	broad.mit.edu	37	9	139298644	139298644	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:139298644C>T	uc004chi.2	-	9	1276	c.1071G>A	c.(1069-1071)GCG>GCA	p.A357A	SDCCAG3_uc004chj.2_Silent_p.A334A|SDCCAG3_uc004chk.2_Silent_p.A284A	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	357	Potential.					cytoplasm					0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TGGAGACCTGCGCCTGGGGGG	0.672												
LCN6	158062	broad.mit.edu	37	9	139641987	139641987	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:139641987A>G	uc004ciy.2	-	2	164	c.119T>C	c.(118-120)GTG>GCG	p.V40A	LCN10_uc004ciw.2_RNA|uc004ciz.1_RNA	NM_198946	NP_945184	P62502	LCN6_HUMAN	lipocalin 6 precursor	40					single fertilization	extracellular region	binding				0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		CCGGGAGGCCACCGCAAGCAC	0.488												
MAMDC4	158056	broad.mit.edu	37	9	139754412	139754412	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:139754412C>T	uc004cjs.2	+	26	3318	c.3268C>T	c.(3268-3270)CTG>TTG	p.L1090L	MAMDC4_uc011mej.1_Silent_p.L427L	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	1169	Helical; (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCTGGTGCTGCTGGGACTTGG	0.617												
FBXW5	54461	broad.mit.edu	37	9	139836876	139836876	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:139836876T>C	uc004cjx.2	-	6	869	c.718A>G	c.(718-720)AAG>GAG	p.K240E	FBXW5_uc010nbx.2_RNA|FBXW5_uc004cjy.2_5'UTR|FBXW5_uc004cjz.2_5'UTR|C8G_uc004cka.2_5'Flank	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	240							catalytic activity|protein binding				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TTCTGGATCTTGAACAGCCGC	0.687												
UAP1L1	91373	broad.mit.edu	37	9	139973063	139973063	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:139973063C>T	uc010ncb.2	+	3	636	c.604C>T	c.(604-606)CTG>TTG	p.L202L	UAP1L1_uc004cla.3_Silent_p.L79L	NM_207309	NP_997192	Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like	202							nucleotidyltransferase activity			ovary(1)	1	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GCAGCGCCTGCTGCCTGCTGT	0.617												
FAM166A	401565	broad.mit.edu	37	9	140139908	140139908	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:140139908G>A	uc004cmi.1	-	3	428	c.373C>T	c.(373-375)CTG>TTG	p.L125L		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	hypothetical protein LOC401565	125										ovary(1)	1						GCAGGCAGCAGAATCTGTCTG	0.612												
EXD3	54932	broad.mit.edu	37	9	140246528	140246528	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:140246528G>A	uc004cmp.2	-	12	1359	c.1163C>T	c.(1162-1164)GCA>GTA	p.A388V	C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Missense_Mutation_p.A68V|EXD3_uc004cmq.1_RNA	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	388					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0						CTGCAGGAGTGCACCCTCGTG	0.652												
NELF	26012	broad.mit.edu	37	9	140347536	140347536	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:140347536G>A	uc004cna.2	-	9	1251	c.1019C>T	c.(1018-1020)ACC>ATC	p.T340I	C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_Missense_Mutation_p.T137I|NELF_uc010nci.2_Missense_Mutation_p.T84I|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.T317I|NELF_uc004cmz.2_Missense_Mutation_p.T338I|NELF_uc004cnc.2_Missense_Mutation_p.T315I|NELF_uc004cnb.2_Missense_Mutation_p.T310I	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	340						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		GAAGCCTTCGGTGTCGCAGGC	0.667												
PNPLA7	375775	broad.mit.edu	37	9	140372528	140372528	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:140372528G>A	uc004cnf.2	-	24	3102	c.2765C>T	c.(2764-2766)ACG>ATG	p.T922M	C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Missense_Mutation_p.T188M|PNPLA7_uc004cne.1_Missense_Mutation_p.T188M|PNPLA7_uc011mfa.1_Missense_Mutation_p.T330M|PNPLA7_uc010ncj.1_Missense_Mutation_p.T947M	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	922					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGCGTTGCCCGTCAGCACCCT	0.662												
PNPLA7	375775	broad.mit.edu	37	9	140379167	140379167	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:140379167G>A	uc004cnf.2	-	20	2481	c.2144C>T	c.(2143-2145)ACG>ATG	p.T715M	C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Translation_Start_Site|PNPLA7_uc004cne.1_Translation_Start_Site|PNPLA7_uc011mfa.1_Missense_Mutation_p.T123M|PNPLA7_uc010ncj.1_Missense_Mutation_p.T740M	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	715					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCTGCCCTCCGTGGGGAGCCC	0.672												
PNPLA7	375775	broad.mit.edu	37	9	140396151	140396151	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:140396151G>A	uc004cnf.2	-	14	1764	c.1427C>T	c.(1426-1428)GCG>GTG	p.A476V	C9orf167_uc011mew.1_Intron|PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Missense_Mutation_p.A501V	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	476	cNMP 2.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTGCAGAAGCGCCACCCGGCC	0.607												
EHMT1	79813	broad.mit.edu	37	9	140707883	140707883	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:140707883C>T	uc011mfc.1	+	21	3118	c.3081C>T	c.(3079-3081)AAC>AAT	p.N1027N	EHMT1_uc004coe.2_5'Flank	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1027					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCTGTGTCAACGCCGTGGACA	0.592												
CACNA1B	774	broad.mit.edu	37	9	140852063	140852063	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:140852063G>A	uc004cog.2	+	10	1402	c.1257G>A	c.(1255-1257)GCG>GCA	p.A419A	CACNA1B_uc011mfd.1_5'UTR	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	419	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGAAGAGAGCGGCCACCAAGA	0.592												
PPP2R3B	28227	broad.mit.edu	37	X	299352	299352	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:299352G>A	uc004cpg.2	-	12	1765	c.1564C>T	c.(1564-1566)CCC>TCC	p.P522S	PPP2R3B_uc004cpf.2_Missense_Mutation_p.P123S	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	522					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				tcctcccaGGGCTCTCCCGCA	0.358												
ASMTL	8623	broad.mit.edu	37	X	1537918	1537918	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:1537918C>T	uc004cpx.1	-	10	1446	c.1335G>A	c.(1333-1335)ACG>ACA	p.T445T	ASMTL_uc011mhe.1_Silent_p.T369T|ASMTL_uc004cpy.1_Silent_p.T429T|ASMTL_uc011mhf.1_Silent_p.T387T	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	445	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GATTGAAGGCCGTGGCCACCT	0.627												
P2RY8	286530	broad.mit.edu	37	X	1585129	1585129	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:1585129T>A	uc004cpz.2	-	2	571	c.323A>T	c.(322-324)TAT>TTT	p.Y108F		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	108	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GATGCTGGAATACATGTTTGC	0.582			T	CRLF2	B-ALL|Downs associated ALL							
SFRS17A	8227	broad.mit.edu	37	X	1713017	1713017	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:1713017A>G	uc004cqa.2	+	2	858	c.662A>G	c.(661-663)TAC>TGC	p.Y221C	SFRS17A_uc010ncx.1_Missense_Mutation_p.Y221C|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	221	RRM.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TATGTGCAGTACCGCGAGTAC	0.607												
ZBED1	9189	broad.mit.edu	37	X	2407120	2407120	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:2407120C>T	uc004cqg.2	-	2	1842	c.1641G>A	c.(1639-1641)ATG>ATA	p.M547I	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.M547I	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	547						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTCGGCCAGCATGTTGTTGA	0.637												
ZBED1	9189	broad.mit.edu	37	X	2408097	2408097	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:2408097C>T	uc004cqg.2	-	2	865	c.664G>A	c.(664-666)GCC>ACC	p.A222T	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.A222T	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	222						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGTTGGGGGCGCCCAGGCCC	0.647												
GYG2	8908	broad.mit.edu	37	X	2748154	2748154	+	Translation_Start_Site	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:2748154G>A	uc004cqs.1	+	2	207	c.-75G>A	c.(-77--73)TCGTG>TCATG		GYG2_uc004cqt.1_Translation_Start_Site|GYG2_uc004cqu.1_Translation_Start_Site|GYG2_uc004cqv.1_Translation_Start_Site|GYG2_uc004cqw.1_Translation_Start_Site	NM_003918	NP_003909	O15488	GLYG2_HUMAN	glycogenin 2 isoform b						glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			ovary(1)|kidney(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCGGGTTCGTGGCGAGGAA	0.706												
NLGN4X	57502	broad.mit.edu	37	X	5821127	5821127	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:5821127G>A	uc010ndh.2	-	5	2093	c.1592C>T	c.(1591-1593)GCC>GTC	p.A531V	NLGN4X_uc004crp.2_Missense_Mutation_p.A551V|NLGN4X_uc004crq.2_Missense_Mutation_p.A531V|NLGN4X_uc010ndi.2_Missense_Mutation_p.A568V|NLGN4X_uc004crr.2_Missense_Mutation_p.A531V|NLGN4X_uc010ndj.2_Missense_Mutation_p.A531V	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	531	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						CCCAGTTTTGGCGAAGTTCGT	0.512												
STS	412	broad.mit.edu	37	X	7177623	7177623	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:7177623G>A	uc004cry.3	+	5	876	c.631G>A	c.(631-633)GTG>ATG	p.V211M		NM_000351	NP_000342	P08842	STS_HUMAN	steryl-sulfatase precursor	211	Cytoplasmic.				female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			central_nervous_system(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	GCTACTCCACGTGCCTCTAGG	0.552									Ichthyosis			
MSL3	10943	broad.mit.edu	37	X	11778981	11778981	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:11778981C>T	uc004cuw.2	+	4	412	c.307C>T	c.(307-309)CGC>TGC	p.R103C	MSL3_uc004cuv.1_Missense_Mutation_p.R103C|MSL3_uc004cux.2_Missense_Mutation_p.R44C|MSL3_uc011mig.1_5'UTR|MSL3_uc011mih.1_Missense_Mutation_p.R91C|MSL3_uc004cuy.2_5'UTR|MSL3_uc011mii.1_5'UTR	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3-like 1 isoform a	103					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AAAGAAGAAGCGCTGCAGGTT	0.398												
TLR8	51311	broad.mit.edu	37	X	12937486	12937486	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:12937486A>G	uc004cve.2	+	2	395	c.327A>G	c.(325-327)ATA>ATG	p.I109M	TLR8_uc004cvd.2_Missense_Mutation_p.I127M	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	109	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						ATCCCGGTATACAATCAAATG	0.418												
FAM9C	171484	broad.mit.edu	37	X	13058956	13058956	+	Silent	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:13058956T>G	uc004cvh.1	-	5	460	c.250A>C	c.(250-252)AGG>CGG	p.R84R	FAM9C_uc004cvg.2_Silent_p.R84R	NM_174901	NP_777561	Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	84						nucleus					0						TTTTCAATCCTTTTTCTCTTT	0.294												
PIGA	5277	broad.mit.edu	37	X	15349522	15349522	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:15349522A>G	uc004cwr.2	-	2	631	c.531T>C	c.(529-531)GAT>GAC	p.D177D	PIGA_uc004cwq.2_Intron|PIGA_uc010nev.2_Intron|PIGA_uc004cws.2_Intron|PIGA_uc011miq.1_Intron|PIGA_uc010new.1_Intron	NM_002641	NP_002632	P37287	PIGA_HUMAN	phosphatidylinositol	177	Cytoplasmic (Potential).				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding				0	Hepatocellular(33;0.183)					TGTGGTTTGTATCACAAAGAG	0.423												
RBBP7	5931	broad.mit.edu	37	X	16870947	16870947	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:16870947C>T	uc004cxt.2	-	7	1168	c.810G>A	c.(808-810)GCG>GCA	p.A270A	RBBP7_uc004cxs.1_Silent_p.A314A|RBBP7_uc004cxu.2_Silent_p.A261A|RBBP7_uc010nez.2_3'UTR	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	270					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			upper_aerodigestive_tract(1)|ovary(1)	2	Hepatocellular(33;0.0997)					CGGCAGTGTGCGCATCCACCA	0.502												
NHS	4810	broad.mit.edu	37	X	17743968	17743968	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:17743968G>A	uc004cxx.2	+	6	2017	c.1679G>A	c.(1678-1680)AGG>AAG	p.R560K	NHS_uc011mix.1_Missense_Mutation_p.R581K|NHS_uc004cxy.2_Missense_Mutation_p.R404K|NHS_uc004cxz.2_Missense_Mutation_p.R383K|NHS_uc004cya.2_Missense_Mutation_p.R283K	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	560						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					GAGAGGGGAAGGTCACGTCTG	0.597												
NHS	4810	broad.mit.edu	37	X	17744389	17744389	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:17744389T>C	uc004cxx.2	+	6	2438	c.2100T>C	c.(2098-2100)AGT>AGC	p.S700S	NHS_uc011mix.1_Silent_p.S721S|NHS_uc004cxy.2_Silent_p.S544S|NHS_uc004cxz.2_Silent_p.S523S|NHS_uc004cya.2_Silent_p.S423S	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	700						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					CAAGTGACAGTGAGTGGAATT	0.532												
DDX53	168400	broad.mit.edu	37	X	23018420	23018420	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:23018420A>G	uc004daj.2	+	1	334	c.246A>G	c.(244-246)ATA>ATG	p.I82M		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	82	KH.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			large_intestine(1)|ovary(1)|kidney(1)	3						ACACTAAAATACAGATCATAA	0.353												
PTCHD1	139411	broad.mit.edu	37	X	23411871	23411871	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:23411871A>G	uc004dal.3	+	3	2244	c.2236A>G	c.(2236-2238)AAA>GAA	p.K746E		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	746	Helical; (Potential).				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						GACATTATGGAAAGTAGAACT	0.408												
FAM48B1	100130302	broad.mit.edu	37	X	24382622	24382622	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:24382622C>A	uc011mjx.1	+	1	1745	c.1745C>A	c.(1744-1746)CCC>CAC	p.P582H		NM_001136234	NP_001129706			hypothetical protein LOC100130302											kidney(1)	1						GCTAGCAGGCCCTGTCCAGCT	0.428												
ARX	170302	broad.mit.edu	37	X	25033798	25033798	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:25033798T>C	uc004dbp.3	-	1	268	c.57A>G	c.(55-57)AAA>AAG	p.K19K		NM_139058	NP_620689	Q96QS3	ARX_HUMAN	aristaless related homeobox	19						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AAGTTGGAGATTTACTTTTGC	0.617												
NR0B1	190	broad.mit.edu	37	X	30326951	30326951	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:30326951A>G	uc004dcf.3	-	1	545	c.530T>C	c.(529-531)TTC>TCC	p.F177S		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	177	4 X 67 AA tandem repeats.|3.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)	CCTCTGCGCGAAGTAGGAGCG	0.677											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DMD	1756	broad.mit.edu	37	X	32490321	32490321	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:32490321G>T	uc004dda.1	-	22	3153	c.2909C>A	c.(2908-2910)ACC>AAC	p.T970N	DMD_uc004dcz.2_Missense_Mutation_p.T847N|DMD_uc004dcy.1_Missense_Mutation_p.T966N|DMD_uc004ddb.1_Missense_Mutation_p.T962N|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	970	Spectrin 6.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCATAGTCGGTGACACTAAG	0.448												
FAM47B	170062	broad.mit.edu	37	X	34961384	34961384	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:34961384C>A	uc004ddi.1	+	1	454	c.436C>A	c.(436-438)CTA>ATA	p.L146I		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	146										ovary(3)|breast(1)	4						TCCAGATCTCCTACTACAGGT	0.572												
FAM47B	170062	broad.mit.edu	37	X	34961421	34961421	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:34961421A>G	uc004ddi.1	+	1	491	c.473A>G	c.(472-474)AAG>AGG	p.K158R		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	158										ovary(3)|breast(1)	4						CCCGAGAGGAAGCTGGAGGAC	0.572												
FAM47B	170062	broad.mit.edu	37	X	34961700	34961700	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:34961700C>A	uc004ddi.1	+	1	770	c.752C>A	c.(751-753)CCT>CAT	p.P251H		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	251	Pro-rich.									ovary(3)|breast(1)	4						CGCGTGGATCCTCCCGAGACT	0.627												
FAM47B	170062	broad.mit.edu	37	X	34962108	34962108	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:34962108C>T	uc004ddi.1	+	1	1178	c.1160C>T	c.(1159-1161)CCG>CTG	p.P387L		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	387										ovary(3)|breast(1)	4						GAATCCTGTCCGCGGCCTTTT	0.572												
RPGR	6103	broad.mit.edu	37	X	38129019	38129019	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:38129019G>A	uc004deb.2	-	19	2476	c.2308C>T	c.(2308-2310)CCA>TCA	p.P770S	RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA	NM_000328	NP_000319	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						TTTATCTCTGGGAGCGGCTCA	0.358												
BCOR	54880	broad.mit.edu	37	X	39934412	39934412	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:39934412T>C	uc004den.3	-	4	479	c.187A>G	c.(187-189)AGG>GGG	p.R63G	BCOR_uc004dep.3_Missense_Mutation_p.R63G|BCOR_uc004deo.3_Missense_Mutation_p.R63G|BCOR_uc004dem.3_Missense_Mutation_p.R63G|BCOR_uc004deq.3_Missense_Mutation_p.R63G	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	63					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						CCATCGATCCTATGGGCCGTG	0.562												
NYX	60506	broad.mit.edu	37	X	41334051	41334051	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:41334051C>T	uc004dfh.2	+	2	1775	c.1345C>T	c.(1345-1347)CGT>TGT	p.R449C	NYX_uc011mku.1_Missense_Mutation_p.R444C	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN	nyctalopin precursor	449					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				lung(2)	2						CCTCTCCTCCCGTGGGGTGGG	0.706												
CXorf36	79742	broad.mit.edu	37	X	45059991	45059991	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:45059991G>A	uc004dgg.2	-	1	156	c.81C>T	c.(79-81)AGC>AGT	p.S27S	CXorf36_uc004dgi.3_Silent_p.S27S	NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	hypothetical protein LOC79742 isoform 1	27						extracellular region				lung(1)	1						AGAAAGAACAGCTCAGGGCTG	0.597												
RP2	6102	broad.mit.edu	37	X	46712975	46712975	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:46712975C>T	uc004dgw.3	+	2	356	c.167C>T	c.(166-168)ACG>ATG	p.T56M		NM_006915	NP_008846	O75695	XRP2_HUMAN	XRP2 protein	56	C-CAP/cofactor C-like.				cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding				0						TTACCTGGGACGGTAGCAGGA	0.408												
ZNF157	7712	broad.mit.edu	37	X	47271825	47271825	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:47271825A>T	uc004dhr.1	+	4	422	c.353A>T	c.(352-354)GAT>GTT	p.D118V		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	118					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTCAGGCATGATAATGACCTT	0.279												
ARAF	369	broad.mit.edu	37	X	47426492	47426492	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:47426492C>T	uc011mlq.1	+	9	968	c.835C>T	c.(835-837)CGC>TGC	p.R279C	ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_Missense_Mutation_p.R145C|ARAF_uc011mlp.1_Missense_Mutation_p.R279C|ARAF_uc004dic.1_Missense_Mutation_p.R60C	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	279					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	AGCAGAGCAGCGCGAGCGGAA	0.612												
CFP	5199	broad.mit.edu	37	X	47486574	47486574	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:47486574C>T	uc004dig.3	-	5	858	c.732G>A	c.(730-732)GAG>GAA	p.E244E	CFP_uc004dih.2_Silent_p.E244E|CFP_uc004dii.1_Silent_p.E180E|CFP_uc010nhu.2_Silent_p.E244E	NM_001145252	NP_001138724	P27918	PROP_HUMAN	complement factor properdin precursor	244	TSP type-1 3.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(2)|lung(1)	3						ACCTCCGCTGCTCGTAGGCTA	0.637												
ZNF81	347344	broad.mit.edu	37	X	47775788	47775788	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:47775788T>C	uc010nhy.1	+	6	2111	c.1743T>C	c.(1741-1743)CCT>CCC	p.P581P		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	581						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)				CAGAGAAGCCTTATAAATGTC	0.413												
PORCN	64840	broad.mit.edu	37	X	48372714	48372714	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:48372714C>T	uc010nie.1	+	9	964	c.806C>T	c.(805-807)GCG>GTG	p.A269V	PORCN_uc004djr.1_Missense_Mutation_p.A264V|PORCN_uc004djs.1_Missense_Mutation_p.A258V|PORCN_uc004djt.1_Missense_Mutation_p.A187V|PORCN_uc011mlx.1_Missense_Mutation_p.A187V|PORCN_uc004dju.1_Missense_Mutation_p.A127V|PORCN_uc004djv.1_Missense_Mutation_p.A269V|PORCN_uc004djw.1_Missense_Mutation_p.A263V	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	porcupine isoform D	269	Helical; (Potential).				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3						GCCACGTTGGCGGGGGCTGGC	0.622												
TBC1D25	4943	broad.mit.edu	37	X	48418664	48418664	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:48418664T>C	uc004dka.1	+	6	1479	c.1368T>C	c.(1366-1368)GGT>GGC	p.G456G	TBC1D25_uc011mly.1_Silent_p.G398G|TBC1D25_uc004dkb.1_Silent_p.G202G|TBC1D25_uc011mlz.1_Silent_p.G202G|TBC1D25_uc011mma.1_Silent_p.G202G|TBC1D25_uc004dkc.1_Silent_p.G202G|TBC1D25_uc011mmb.1_Silent_p.G460G|TBC1D25_uc011mmc.1_Silent_p.G202G|TBC1D25_uc011mmd.1_Silent_p.G202G	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	456						intracellular	Rab GTPase activator activity			ovary(1)	1						CAGACGCTGGTTTTGGTGGCC	0.612												
PQBP1	10084	broad.mit.edu	37	X	48758490	48758490	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:48758490G>A	uc004dle.2	+	3	280	c.91G>A	c.(91-93)GAG>AAG	p.E31K	PQBP1_uc004dlf.2_Missense_Mutation_p.E31K|PQBP1_uc004dlg.2_Missense_Mutation_p.E31K|PQBP1_uc004dld.2_RNA|PQBP1_uc004dlh.2_Missense_Mutation_p.E31K|PQBP1_uc004dli.2_Missense_Mutation_p.E31K|PQBP1_uc004dlj.1_Missense_Mutation_p.E31K|PQBP1_uc004dln.2_Missense_Mutation_p.E31K|PQBP1_uc010nih.2_RNA|PQBP1_uc010nii.2_5'UTR|PQBP1_uc004dlk.2_Missense_Mutation_p.E31K|PQBP1_uc004dll.2_5'UTR|PQBP1_uc004dlm.2_5'UTR|PQBP1_uc010nij.2_Missense_Mutation_p.E31K	NM_001032382	NP_001027554	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			large_intestine(1)	1						GATCATTGCCGAGGACTATGA	0.552												
SLC35A2	7355	broad.mit.edu	37	X	48762402	48762402	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:48762402C>T	uc004dlo.1	-	4	788	c.784G>A	c.(784-786)GGT>AGT	p.G262S	SLC35A2_uc011mml.1_Missense_Mutation_p.G275S|SLC35A2_uc004dlp.1_Missense_Mutation_p.G262S|SLC35A2_uc011mmm.1_Missense_Mutation_p.G290S|SLC35A2_uc011mmn.1_Missense_Mutation_p.G201S|SLC35A2_uc004dlr.1_Silent_p.V115V|SLC35A2_uc004dlq.2_Intron	NM_005660	NP_005651	P78381	S35A2_HUMAN	solute carrier family 35, member A2 isoform a	262					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)	1						AAAAAGAAACCACGGGTGGCC	0.627												
TFE3	7030	broad.mit.edu	37	X	48891041	48891041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:48891041G>A	uc004dmb.3	-	8	1313	c.1075C>T	c.(1075-1077)CGA>TGA	p.R359*	TFE3_uc004dmc.3_Nonsense_Mutation_p.R254*|TFE3_uc004dme.1_RNA	NM_006521	NP_006512	P19532	TFE3_HUMAN	transcription factor E3	359	Basic motif.				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						ATGTTGAATCGCCTGCGACGC	0.532			T	SFPQ|ASPSCR1|PRCC|NONO|CLTC	papillary renal|alveolar soft part sarcoma|renal							
CCDC120	90060	broad.mit.edu	37	X	48921421	48921421	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:48921421C>T	uc010nik.2	+	5	720	c.213C>T	c.(211-213)TGC>TGT	p.C71C	CCDC120_uc011mmq.1_Silent_p.C59C|CCDC120_uc004dmf.2_Silent_p.C71C|CCDC120_uc010nil.2_Silent_p.C71C|CCDC120_uc011mmr.1_Silent_p.C71C|CCDC120_uc011mms.1_Silent_p.C59C	NM_033626	NP_296375	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120 isoform 3	71							protein binding			pancreas(1)	1						CCCCTGAGTGCCCACTAGAGC	0.642												
PRICKLE3	4007	broad.mit.edu	37	X	49034431	49034431	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:49034431C>T	uc004dmy.1	-	7	892	c.866G>A	c.(865-867)CGC>CAC	p.R289H	PRICKLE3_uc011mmv.1_Missense_Mutation_p.R221H|PRICKLE3_uc011mmw.1_Missense_Mutation_p.R208H|PRICKLE3_uc011mmx.1_Missense_Mutation_p.R251H|PRICKLE3_uc011mmy.1_Missense_Mutation_p.R276H	NM_006150	NP_006141	O43900	PRIC3_HUMAN	LIM domain only 6	289	LIM zinc-binding 2.						protein binding|zinc ion binding			breast(1)	1						CATGACATAGCGCTGCCCTCC	0.617												
PRICKLE3	4007	broad.mit.edu	37	X	49036124	49036124	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:49036124T>C	uc004dmy.1	-	4	370	c.344A>G	c.(343-345)GAC>GGC	p.D115G	PRICKLE3_uc011mmv.1_Missense_Mutation_p.D47G|PRICKLE3_uc011mmw.1_Intron|PRICKLE3_uc011mmx.1_Intron|PRICKLE3_uc011mmy.1_Intron	NM_006150	NP_006141	O43900	PRIC3_HUMAN	LIM domain only 6	115	PET.						protein binding|zinc ion binding			breast(1)	1						GGGGACCTTGTCCTCTGGGAG	0.532												
SYP	6855	broad.mit.edu	37	X	49050714	49050714	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:49050714G>A	uc004dmz.1	-	4	348	c.332C>T	c.(331-333)GCC>GTC	p.A111V	SYP_uc011mmz.1_5'UTR|SYP_uc004dna.1_Missense_Mutation_p.A105V	NM_003179	NP_003170	P08247	SYPH_HUMAN	synaptophysin	111	MARVEL.|Helical; (Potential).				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(315;0.00016)				GGCAAACACGGCCACGGTGAC	0.557												
TSPYL2	64061	broad.mit.edu	37	X	53112245	53112245	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:53112245C>T	uc004drw.2	+	1	697	c.565C>T	c.(565-567)CGG>TGG	p.R189W	TSPYL2_uc004drv.2_Missense_Mutation_p.R189W|TSPYL2_uc004drx.1_5'Flank	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	189	Arg-rich.				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding				0						cagcaggaggcggcggcggcg	0.254												
KDM5C	8242	broad.mit.edu	37	X	53245079	53245079	+	Silent	SNP	C	C	T	rs61751238		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:53245079C>T	uc004drz.2	-	7	1394	c.861G>A	c.(859-861)TCG>TCA	p.S287S	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.S220S|KDM5C_uc004dsa.2_Silent_p.S286S	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	287					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						AGGTCTTAGGCGATGTTGACT	0.557			N|F|S		clear cell renal carcinoma							
HUWE1	10075	broad.mit.edu	37	X	53574768	53574768	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:53574768G>A	uc004dsp.2	-	68	10904	c.10502C>T	c.(10501-10503)ACG>ATG	p.T3501M	HUWE1_uc004dsn.2_Missense_Mutation_p.T2309M	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3501	Thr-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GGGTGTGGGCgtggtggaggc	0.418												
HUWE1	10075	broad.mit.edu	37	X	53581651	53581651	+	Silent	SNP	T	T	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:53581651T>G	uc004dsp.2	-	61	8839	c.8437A>C	c.(8437-8439)AGG>CGG	p.R2813R	HUWE1_uc004dsn.2_Silent_p.R1637R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2813					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CCACTTGGCCTTGTGGGACCC	0.512												
HUWE1	10075	broad.mit.edu	37	X	53588851	53588851	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:53588851T>C	uc004dsp.2	-	55	7775	c.7373A>G	c.(7372-7374)GAT>GGT	p.D2458G	HUWE1_uc004dsn.2_Missense_Mutation_p.D1282G	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2458	Asp-rich.|Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						ATCGTCGTCATCGTCTTCATC	0.493												
HUWE1	10075	broad.mit.edu	37	X	53652155	53652155	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:53652155G>A	uc004dsp.2	-	18	1956	c.1554C>T	c.(1552-1554)GCC>GCT	p.A518A		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	518					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GGTCTTGGATGGCCTTCTTGA	0.398												
WNK3	65267	broad.mit.edu	37	X	54263764	54263764	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:54263764A>G	uc004dtd.1	-	20	4533	c.4094T>C	c.(4093-4095)GTT>GCT	p.V1365A	WNK3_uc004dtc.1_Missense_Mutation_p.V1412A	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1365					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						TTGTTTGGGAACTCCTTTATT	0.393												
USP51	158880	broad.mit.edu	37	X	55515144	55515144	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:55515144T>C	uc004dun.1	-	2	308	c.229A>G	c.(229-231)AGC>GGC	p.S77G	USP51_uc011moo.1_Missense_Mutation_p.S22G	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	77					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						TCGCCGCCGCTGCTGCTCCAC	0.577												
OPHN1	4983	broad.mit.edu	37	X	67272396	67272396	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:67272396G>A	uc004dww.3	-	23	2655	c.2361C>T	c.(2359-2361)TCC>TCT	p.S787S	OPHN1_uc011mpg.1_Silent_p.S679S	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	787					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2						CTGTTTTCCGGGAAGCTGTTT	0.428												
P2RY4	5030	broad.mit.edu	37	X	69478840	69478840	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:69478840G>A	uc004dxz.1	-	1	815	c.635C>T	c.(634-636)CCC>CTC	p.P212L		NM_002565	NP_002556	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y4	212	Helical; Name=5; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1						GACCAGGCAGGGCACGCCAAA	0.597												
FOXO4	4303	broad.mit.edu	37	X	70320819	70320819	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:70320819C>T	uc004dys.1	+	2	1092	c.739C>T	c.(739-741)CGT>TGT	p.R247C	FOXO4_uc010nkz.2_Missense_Mutation_p.R247C|FOXO4_uc004dyt.1_Missense_Mutation_p.R192C	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	247					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					CTCTCGAAACCGTGAAGAAGC	0.592											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FOXO4	4303	broad.mit.edu	37	X	70321313	70321313	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:70321313C>T	uc004dys.1	+	2	1586	c.1233C>T	c.(1231-1233)GGC>GGT	p.G411G	FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Silent_p.G356G	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	411					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					TGGCCACGGGCGTCGGCCTGT	0.617												
NLGN3	54413	broad.mit.edu	37	X	70389595	70389595	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:70389595G>A	uc004dzb.2	+	7	2439	c.2135G>A	c.(2134-2136)CGT>CAT	p.R712H	NLGN3_uc004dzc.2_Missense_Mutation_p.R595H|NLGN3_uc011mps.1_Missense_Mutation_p.R692H|NLGN3_uc004dze.2_Missense_Mutation_p.R530H	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	732	Cytoplasmic (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					CTCTACTACCGTAAGGACAAA	0.642												
NONO	4841	broad.mit.edu	37	X	70517750	70517750	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:70517750C>T	uc004dzo.2	+	10	1803	c.1093C>T	c.(1093-1095)CGA>TGA	p.R365*	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Nonsense_Mutation_p.R365*|NONO_uc004dzp.2_Nonsense_Mutation_p.R365*|NONO_uc011mpv.1_Nonsense_Mutation_p.R276*|NONO_uc004dzq.2_Nonsense_Mutation_p.R234*	NM_001145408	NP_001138880	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	365	Potential.|DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	ovary(2)|kidney(2)	4	Renal(35;0.156)					AATGATGCGGCGACAGCAGGA	0.522			T	TFE3	papillary renal cancer							
RLIM	51132	broad.mit.edu	37	X	73812036	73812036	+	Missense_Mutation	SNP	G	G	A	rs61754467		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:73812036G>A	uc004ebu.2	-	5	1404	c.1114C>T	c.(1114-1116)CGG>TGG	p.R372W	RLIM_uc004ebw.2_Missense_Mutation_p.R372W	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	372					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						ACACCTGCCCGCTCAGAACGT	0.443												
ATP7A	538	broad.mit.edu	37	X	77266709	77266709	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:77266709C>T	uc004ecx.3	+	8	2066	c.1906C>T	c.(1906-1908)CGG>TGG	p.R636W	ATP7A_uc004ecw.2_3'UTR	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	636	Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						CAAGAAGGATCGGTCAGCAAG	0.299												
ATP7A	538	broad.mit.edu	37	X	77284891	77284891	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:77284891C>T	uc004ecx.3	+	15	3221	c.3061C>T	c.(3061-3063)CAA>TAA	p.Q1021*		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1021	Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						AGTAGGTGCTCAAAATGGCAT	0.468												
BRWD3	254065	broad.mit.edu	37	X	80001091	80001091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:80001091G>A	uc004edt.2	-	7	831	c.568C>T	c.(568-570)CGA>TGA	p.R190*	BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Nonsense_Mutation_p.R19*|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_Intron|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	190	WD 2.									ovary(4)	4						CTCCCGCTTCGGTCAAATGCT	0.378												
SH3BGRL	6451	broad.mit.edu	37	X	80457739	80457739	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:80457739A>G	uc004eef.2	+	1	437	c.40A>G	c.(40-42)ACA>GCA	p.T14A	SH3BGRL_uc011mqs.1_RNA|SH3BGRL_uc010nml.2_RNA|SH3BGRL_uc010nmm.2_5'UTR|SH3BGRL_uc010nmn.2_5'Flank|HMGN5_uc004eee.1_5'Flank	NM_003022	NP_003013	O75368	SH3L1_HUMAN	SH3 domain binding glutamic acid-rich protein	14						cytoplasm|nucleus	SH3 domain binding|SH3/SH2 adaptor activity			ovary(1)	1		all_lung(315;5.94e-05)				CTCTGGCTCTACAGCGGTAAG	0.527												
PABPC5	140886	broad.mit.edu	37	X	90690639	90690639	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:90690639C>T	uc004efg.2	+	2	503	c.63C>T	c.(61-63)TAC>TAT	p.Y21Y	PABPC5_uc004eff.1_Intron	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	21	RRM 1.					cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						CCGCTCTGTACGTGGGTGACT	0.547												
PCDH11X	27328	broad.mit.edu	37	X	91132510	91132510	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:91132510T>C	uc004efk.1	+	2	2116	c.1271T>C	c.(1270-1272)CTT>CCT	p.L424P	PCDH11X_uc004efl.1_Missense_Mutation_p.L424P|PCDH11X_uc004efo.1_Missense_Mutation_p.L424P|PCDH11X_uc010nmv.1_Missense_Mutation_p.L424P|PCDH11X_uc004efm.1_Missense_Mutation_p.L424P|PCDH11X_uc004efn.1_Missense_Mutation_p.L424P|PCDH11X_uc004efh.1_Missense_Mutation_p.L424P|PCDH11X_uc004efj.1_Missense_Mutation_p.L424P	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	424	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						GCAGCATATCTTGACTATGAG	0.423												
RPA4	29935	broad.mit.edu	37	X	96140046	96140046	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:96140046G>A	uc004efv.3	+	1	1035	c.737G>A	c.(736-738)GGC>GAC	p.G246D	DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	replication protein A4, 34kDa	246					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding				0						ACCGTTGAGGGCCACATCTAT	0.512								Other_identified_genes_with_known_or_suspected_DNA_repair_function				
SYTL4	94121	broad.mit.edu	37	X	99942204	99942204	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:99942204A>G	uc004egd.3	-	13	1400	c.1044T>C	c.(1042-1044)GCT>GCC	p.A348A	SYTL4_uc010nnb.2_Silent_p.A20A|SYTL4_uc010nnc.2_Silent_p.A348A|SYTL4_uc004ege.3_Silent_p.A348A|SYTL4_uc004egf.3_Silent_p.A348A|SYTL4_uc004egg.3_3'UTR	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	348					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGAAATCACCAGCTTCACTGT	0.522												
CSTF2	1478	broad.mit.edu	37	X	100077249	100077249	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:100077249C>T	uc004egh.2	+	3	205	c.147C>T	c.(145-147)TAC>TAT	p.Y49Y	CSTF2_uc010nnd.2_Silent_p.Y49Y|CSTF2_uc004egi.2_Silent_p.Y49Y	NM_001325	NP_001316	P33240	CSTF2_HUMAN	cleavage stimulation factor subunit 2	49	RRM.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding			skin(1)	1						GATTGGTATACGATAGAGAGA	0.468												
XKRX	402415	broad.mit.edu	37	X	100183088	100183088	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:100183088T>C	uc004egn.2	-	1	811	c.206A>G	c.(205-207)TAC>TGC	p.Y69C	XKRX_uc011mre.1_Translation_Start_Site	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	69	Helical; (Potential).					integral to membrane|plasma membrane				breast(1)	1						AGAAAAGGTGTATGTCATCCA	0.383												
BTK	695	broad.mit.edu	37	X	100613407	100613407	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:100613407T>C	uc004ehg.2	-	12	1186	c.993A>G	c.(991-993)ATA>ATG	p.I331M	BTK_uc004ehf.2_Translation_Start_Site|BTK_uc010nnh.2_RNA|BTK_uc010nni.2_RNA|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_RNA|BTK_uc010nnl.2_Translation_Start_Site|BTK_uc010nnm.2_Translation_Start_Site|BTK_uc010nnn.2_Missense_Mutation_p.I331M|BTK_uc010nno.2_Missense_Mutation_p.I365M|BTK_uc004ehh.1_RNA|BTK_uc004ehi.2_Missense_Mutation_p.I331M	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	331	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6						CATAATGACGTATCACCCCTT	0.473									Agammaglobulinemia_X-linked			
GLA	2717	broad.mit.edu	37	X	100653081	100653081	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:100653081T>C	uc004ehl.1	-	7	1116	c.1006A>G	c.(1006-1008)AAC>GAC	p.N336D		NM_000169	NP_000160	P06280	AGAL_HUMAN	alpha-galactosidase A precursor	336					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding				0					Agalsidase beta(DB00103)	ACTTCAAAGTTGTCTCCCTGA	0.463												
GPRASP1	9737	broad.mit.edu	37	X	101911431	101911431	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:101911431T>A	uc004ejj.3	+	5	3391	c.2590T>A	c.(2590-2592)TCA>ACA	p.S864T	GPRASP1_uc004eji.3_Missense_Mutation_p.S864T|GPRASP1_uc010nod.2_Missense_Mutation_p.S864T	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	864	Glu-rich.					cytoplasm	protein binding			ovary(1)|lung(1)	2						CGGCTTTGAGTCAAAGCCTGG	0.517												
RAB40A	142684	broad.mit.edu	37	X	102755236	102755236	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:102755236A>G	uc004ekk.2	-	3	791	c.449T>C	c.(448-450)GTG>GCG	p.V150A		NM_080879	NP_543155	Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	150					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0						AAAGAAGGTCACACCCAGGCG	0.577												
IL1RAPL2	26280	broad.mit.edu	37	X	104512145	104512145	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:104512145A>G	uc004elz.1	+	5	1374	c.618A>G	c.(616-618)GAA>GAG	p.E206E		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	206	Ig-like C2-type 2.|Extracellular (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						AAGTTCAAGAAGAAGATGGAG	0.338												
ALG13	79868	broad.mit.edu	37	X	110951411	110951411	+	Silent	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:110951411T>C	uc011msy.1	+	4	574	c.540T>C	c.(538-540)CCT>CCC	p.P180P	ALG13_uc011msw.1_Silent_p.P102P|ALG13_uc011msx.1_Silent_p.P76P|ALG13_uc011msz.1_Silent_p.P102P|ALG13_uc011mta.1_Silent_p.P76P|ALG13_uc011mtb.1_Silent_p.P76P			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	180					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						CTACCCATCCTACCTGCACCC	0.498												
TRPC5	7224	broad.mit.edu	37	X	111078168	111078168	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:111078168T>C	uc004epl.1	-	7	2796	c.1877A>G	c.(1876-1878)AAC>AGC	p.N626S	TRPC5_uc004epm.1_Missense_Mutation_p.N626S	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	626	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						CTGATAGGAGTTGTTCATCAT	0.443												
TRPC5	7224	broad.mit.edu	37	X	111195437	111195437	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:111195437C>T	uc004epl.1	-	2	1131	c.212G>A	c.(211-213)CGG>CAG	p.R71Q	TRPC5_uc004epm.1_Missense_Mutation_p.R71Q	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	71	ANK 2.|Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						CAGGGCACTCCGGCCCAAGGG	0.517												
HTR2C	3358	broad.mit.edu	37	X	114141413	114141413	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:114141413C>T	uc004epu.1	+	6	1540	c.812C>T	c.(811-813)ACG>ATG	p.T271M	HTR2C_uc010nqc.1_Missense_Mutation_p.T271M|HTR2C_uc004epv.1_Silent_p.Y239Y	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	271	Cytoplasmic (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	AAGAGGAATACGGCCGAGGAA	0.537												
ZCCHC12	170261	broad.mit.edu	37	X	117959764	117959764	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:117959764G>T	uc004equ.2	+	4	1030	c.557G>T	c.(556-558)AGG>ATG	p.R186M		NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			ovary(1)	1						GAGCTGAGTAGGGACCTCCGA	0.303												
SEPT6	23157	broad.mit.edu	37	X	118763453	118763453	+	Missense_Mutation	SNP	G	G	A	rs150468538		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:118763453G>A	uc004erv.2	-	9	1373	c.1108C>T	c.(1108-1110)CGT>TGT	p.R370C	SEPT6_uc010nqk.2_RNA|SEPT6_uc004ers.2_Missense_Mutation_p.R370C|SEPT6_uc004ert.2_Missense_Mutation_p.R370C|SEPT6_uc004eru.2_Missense_Mutation_p.R370C|SEPT6_uc004erw.2_Missense_Mutation_p.R312C|SEPT6_uc011mtv.1_Missense_Mutation_p.R312C|SEPT6_uc011mtw.1_Missense_Mutation_p.R400C	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	septin 6 isoform B	370	Potential.				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			lung(1)|ovary(1)|prostate(1)|kidney(1)	4						TTCTTCAGACGGTCAAACTTC	0.542												
FAM70A	55026	broad.mit.edu	37	X	119394855	119394855	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:119394855G>T	uc004eso.3	-	10	1147	c.920C>A	c.(919-921)CCC>CAC	p.P307H	FAM70A_uc004esp.3_Missense_Mutation_p.P283H|FAM70A_uc010nqo.2_Missense_Mutation_p.P199H	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	hypothetical protein LOC55026 isoform 1	307	Pro-rich.					integral to membrane				lung(1)|breast(1)	2						AAGTCCAGAGGGAGGGGAGGA	0.493												
CUL4B	8450	broad.mit.edu	37	X	119674406	119674406	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:119674406G>A	uc004esw.2	-	13	1946	c.1509C>T	c.(1507-1509)AGC>AGT	p.S503S	CUL4B_uc010nqq.2_Silent_p.S202S|CUL4B_uc004esv.2_Silent_p.S485S	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	503					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3						TTACAATAGTGCTGCCAAATG	0.294												
THOC2	57187	broad.mit.edu	37	X	122755187	122755187	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:122755187A>G	uc004etu.2	-	31	4069	c.4037T>C	c.(4036-4038)GTC>GCC	p.V1346A	THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Missense_Mutation_p.V167A	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1346	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						TGCGTTGGGGACAGTGGTCTT	0.378												
ODZ1	10178	broad.mit.edu	37	X	123805641	123805641	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:123805641C>A	uc004euj.2	-	6	1124	c.1060G>T	c.(1060-1062)GGA>TGA	p.G354*	ODZ1_uc011muj.1_Nonsense_Mutation_p.G353*|ODZ1_uc010nqy.2_Nonsense_Mutation_p.G354*	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	354	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TACAGCTCTCCTTCAACTGGT	0.448												
ELF4	2000	broad.mit.edu	37	X	129203502	129203502	+	Silent	SNP	A	A	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:129203502A>C	uc004evd.3	-	8	1345	c.960T>G	c.(958-960)TCT>TCG	p.S320S	ELF4_uc004eve.3_Silent_p.S320S	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	320					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CAGAGGCCACAGAGGCCGTGG	0.592			T	ERG	AML							
IGSF1	3547	broad.mit.edu	37	X	130409637	130409637	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:130409637T>C	uc004ewd.2	-	16	3237	c.2999A>G	c.(2998-3000)TAC>TGC	p.Y1000C	IGSF1_uc004ewe.3_Missense_Mutation_p.Y994C|IGSF1_uc004ewf.2_Missense_Mutation_p.Y980C	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1000	Extracellular (Potential).|Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						GTGCAGAATGTATCCTACTCC	0.517												
HS6ST2	90161	broad.mit.edu	37	X	132090883	132090883	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:132090883C>T	uc011mve.1	-	3	1316	c.900G>A	c.(898-900)GTG>GTA	p.V300V	HS6ST2_uc011mvb.1_Silent_p.V154V|HS6ST2_uc011mvc.1_Silent_p.V154V|HS6ST2_uc011mvd.1_Silent_p.V300V	NM_147175	NP_671704	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	300	Lumenal (Potential).					integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)					CCACGGAGGGCACACAGCTGG	0.711												
HS6ST2	90161	broad.mit.edu	37	X	132090966	132090966	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:132090966G>A	uc011mve.1	-	3	1233	c.817C>T	c.(817-819)CGG>TGG	p.R273W	HS6ST2_uc011mvb.1_Missense_Mutation_p.R127W|HS6ST2_uc011mvc.1_Missense_Mutation_p.R127W|HS6ST2_uc011mvd.1_Missense_Mutation_p.R273W	NM_147175	NP_671704	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	273	Lumenal (Potential).					integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)					CAGGTTTCCCGCTTACCCGGC	0.652												
USP26	83844	broad.mit.edu	37	X	132161217	132161217	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:132161217C>T	uc010nrm.1	-	6	1502	c.1032G>A	c.(1030-1032)CGG>CGA	p.R344R	USP26_uc011mvf.1_Silent_p.R344R	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	344					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					AAAAAAGTAGCCGTGCCAAGC	0.378												
MOSPD1	56180	broad.mit.edu	37	X	134030951	134030951	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:134030951G>A	uc004eyb.2	-	4	531	c.344C>T	c.(343-345)GCT>GTT	p.A115V	MOSPD1_uc004eya.2_Missense_Mutation_p.A115V|MOSPD1_uc010nrv.2_RNA|MOSPD1_uc011mvr.1_Missense_Mutation_p.A115V	NM_019556	NP_062456	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	115	MSP.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(192;0.000127)					GAGAAGAGTAGCAACAACCTC	0.388												
SAGE1	55511	broad.mit.edu	37	X	134990644	134990644	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:134990644G>A	uc004ezh.2	+	12	1476	c.1309G>A	c.(1309-1311)GTC>ATC	p.V437I	SAGE1_uc010nry.1_Missense_Mutation_p.V406I|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	437										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					AGATGCTACCGTCAATCACCA	0.423												
SLC9A6	10479	broad.mit.edu	37	X	135067951	135067951	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:135067951G>A	uc004ezj.2	+	1	366	c.290G>A	c.(289-291)CGC>CAC	p.R97H	SLC9A6_uc004ezk.2_Missense_Mutation_p.R97H|SLC9A6_uc011mvx.1_Missense_Mutation_p.R45H	NM_006359	NP_006350	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	97					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					CGCCGGGCCCGCTTCCTGCAC	0.617												
FHL1	2273	broad.mit.edu	37	X	135291440	135291440	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:135291440A>G	uc004ezo.2	+	6	827	c.727A>G	c.(727-729)AAA>GAA	p.K243E	FHL1_uc010nrz.2_Intron|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Intron|FHL1_uc004ezq.2_Intron|FHL1_uc011mvy.1_Intron|FHL1_uc011mvz.1_Intron|FHL1_uc004ezn.2_Intron|FHL1_uc011mwa.1_Intron|FHL1_uc011mwb.1_Intron|FHL1_uc004ezp.2_Intron|FHL1_uc004ezr.2_Intron	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	four and a half LIM domains 1 isoform 1	243					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)					CCCAGTCTCTAAAGCTAGGAA	0.557											OREG0019943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MAP7D3	79649	broad.mit.edu	37	X	135301782	135301782	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:135301782C>T	uc004ezt.2	-	17	2626	c.2535G>A	c.(2533-2535)GCG>GCA	p.A845A	MAP7D3_uc004ezs.2_Silent_p.A809A|MAP7D3_uc011mwc.1_Silent_p.A827A|MAP7D3_uc010nsa.1_Silent_p.A803A	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	845						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TGGTTTCATCCGCCTTTCTGG	0.428												
GPR112	139378	broad.mit.edu	37	X	135429336	135429336	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:135429336C>A	uc004ezu.1	+	6	3762	c.3471C>A	c.(3469-3471)TCC>TCA	p.S1157S	GPR112_uc010nsb.1_Silent_p.S952S|GPR112_uc010nsc.1_Silent_p.S924S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1157	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					CTCCTGCGTCCTCCACTCATG	0.468												
ARHGEF6	9459	broad.mit.edu	37	X	135761761	135761761	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:135761761G>T	uc004fab.2	-	16	2225	c.1763C>A	c.(1762-1764)CCG>CAG	p.P588Q	ARHGEF6_uc011mwd.1_Missense_Mutation_p.P461Q|ARHGEF6_uc011mwe.1_Missense_Mutation_p.P434Q	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	588					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					TAAACTCCACGGTTTTATAAT	0.448												
RBMX	27316	broad.mit.edu	37	X	135956372	135956372	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:135956372G>A	uc004fae.1	-	9	1315	c.1105C>T	c.(1105-1107)CGC>TGC	p.R369C	RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_3'UTR|RBMX_uc011mwg.1_Missense_Mutation_p.R330C|RBMX_uc004faf.1_Missense_Mutation_p.R230C|RBMX_uc010nsf.1_Missense_Mutation_p.R330C|RBMX_uc004fag.1_Missense_Mutation_p.R241C	NM_002139	NP_002130	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked isoform 1	369						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					GGTGCTCCGCGGCTTGAACTG	0.542												
ZIC3	7547	broad.mit.edu	37	X	136649419	136649419	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:136649419G>T	uc004fak.2	+	1	1074	c.569G>T	c.(568-570)GGG>GTG	p.G190V		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	190					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GGGCTGCGTGGGGAGCTGTTC	0.677												
FGF13	2258	broad.mit.edu	37	X	137793157	137793157	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:137793157C>T	uc004fam.2	-	1	671	c.9G>A	c.(7-9)GCG>GCA	p.A3A	FGF13_uc004fan.2_Intron|FGF13_uc011mwi.1_Intron|FGF13_uc004faq.2_Intron|FGF13_uc004far.2_Intron|FGF13_uc011mwj.1_Intron|FGF13_uc011mwk.1_Intron|uc004fao.2_5'Flank	NM_004114	NP_004105	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 1	3					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TGGCGATAGCCGCCGCCATGG	0.642												
F9	2158	broad.mit.edu	37	X	138644209	138644209	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:138644209G>A	uc004fas.1	+	8	1394	c.1365G>A	c.(1363-1365)AAG>AAA	p.K455K	F9_uc004fat.1_Silent_p.K417K	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	455	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	ACTGGATTAAGGAAAAAACAA	0.368												
ATP11C	286410	broad.mit.edu	37	X	138882248	138882248	+	Silent	SNP	G	G	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:138882248G>T	uc004faz.2	-	8	789	c.690C>A	c.(688-690)ATC>ATA	p.I230I	ATP11C_uc004fay.2_5'Flank|ATP11C_uc004fba.2_Silent_p.I230I	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	230	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					TATTACTGTAGATATTGATTC	0.363												
CDR1	1038	broad.mit.edu	37	X	139866586	139866586	+	Translation_Start_Site	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:139866586G>A	uc004fbg.1	-	1	138	c.-54C>T	c.(-56--52)GACGT>GATGT			NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,												0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				ACTAAGCTACGTCTTCCAACA	0.463												
AFF2	2334	broad.mit.edu	37	X	147733536	147733536	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:147733536C>T	uc004fcp.2	+	2	543	c.64C>T	c.(64-66)CGT>TGT	p.R22C	AFF2_uc004fco.2_Missense_Mutation_p.R22C|AFF2_uc004fcq.2_Missense_Mutation_p.R22C|AFF2_uc004fcr.2_Missense_Mutation_p.R22C|AFF2_uc011mxb.1_Missense_Mutation_p.R22C|AFF2_uc004fcs.2_Missense_Mutation_p.R22C	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	22					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TGAACAAGACCGTAGTGCACT	0.358												
AFF2	2334	broad.mit.edu	37	X	147744087	147744087	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:147744087T>C	uc004fcp.2	+	3	1318	c.839T>C	c.(838-840)ATG>ACG	p.M280T	AFF2_uc004fco.2_Missense_Mutation_p.M276T|AFF2_uc004fcq.2_Missense_Mutation_p.M276T|AFF2_uc004fcr.2_Missense_Mutation_p.M276T|AFF2_uc011mxb.1_Missense_Mutation_p.M280T|AFF2_uc004fcs.2_Missense_Mutation_p.M276T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	280					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					AAAACAAGCATGGGGCAGCAA	0.512												
AFF2	2334	broad.mit.edu	37	X	147967422	147967422	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:147967422G>A	uc004fcp.2	+	8	1745	c.1266G>A	c.(1264-1266)ATG>ATA	p.M422I	AFF2_uc004fco.2_Missense_Mutation_p.M383I|AFF2_uc004fcq.2_Missense_Mutation_p.M412I|AFF2_uc004fcr.2_Missense_Mutation_p.M383I|AFF2_uc011mxb.1_Missense_Mutation_p.M387I|AFF2_uc004fcs.2_Missense_Mutation_p.M389I|AFF2_uc011mxc.1_Missense_Mutation_p.M63I	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	422					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTAGGATGCTTGAGGATG	0.438												
MTM1	4534	broad.mit.edu	37	X	149818188	149818188	+	Splice_Site	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:149818188G>A	uc004fef.3	+	10	944	c.868_splice	c.e10-1	p.A290_splice	MTM1_uc011mxx.1_Splice_Site|MTM1_uc011mxy.1_Splice_Site_p.A253_splice|MTM1_uc011mxz.1_Splice_Site_p.A175_splice|MTM1_uc010nte.2_Splice_Site_p.A158_splice	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin						endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TTGTTTCTTAGGCAACAGGAG	0.323												
MTMR1	8776	broad.mit.edu	37	X	149905188	149905188	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:149905188C>A	uc004fei.2	+	10	1313	c.1178C>A	c.(1177-1179)CCT>CAT	p.P393H	MTMR1_uc011mya.1_Missense_Mutation_p.P299H|MTMR1_uc004feh.1_Missense_Mutation_p.P401H|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_Intron	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	393	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGTGTACCCTTCGATCGAT	0.443												
MTMR1	8776	broad.mit.edu	37	X	149912872	149912872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:149912872C>T	uc004fei.2	+	12	1624	c.1489C>T	c.(1489-1491)CGA>TGA	p.R497*	MTMR1_uc011mya.1_Nonsense_Mutation_p.R403*|MTMR1_uc004feh.1_Nonsense_Mutation_p.R505*|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_RNA	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	497	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGCTGACCGATCTCCCAT	0.378												
GABRE	2564	broad.mit.edu	37	X	151138815	151138815	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:151138815C>T	uc004ffi.2	-	2	170	c.116G>A	c.(115-117)GGC>GAC	p.G39D	GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA	NM_004961	NP_004952	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor,	39	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTGGGGGCCATAGACAAC	0.512												
GABRA3	2556	broad.mit.edu	37	X	151358315	151358315	+	Missense_Mutation	SNP	C	C	T	rs139179813		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:151358315C>T	uc010ntk.1	-	9	1270	c.1030G>A	c.(1030-1032)GTC>ATC	p.V344I		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	344	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCATAACAGACGGCTATGAAC	0.488												
MAGEA12	4111	broad.mit.edu	37	X	151900066	151900066	+	Silent	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:151900066C>T	uc010ntp.2	-	3	1089	c.735G>A	c.(733-735)CTG>CTA	p.L245L	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Silent_p.L245L	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	245	MAGE.									skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGGGTGAGCAGCTTCCTGG	0.592												
PNMA3	29944	broad.mit.edu	37	X	152226190	152226190	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:152226190G>A	uc004fhc.2	+	2	1114	c.778G>A	c.(778-780)GCA>ACA	p.A260T	PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	paraneoplastic cancer-testis-brain antigen	260					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			skin(2)|large_intestine(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ctatcaggaggcaggagagaa	0												
ATP2B3	492	broad.mit.edu	37	X	152807870	152807870	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:152807870C>T	uc004fht.1	+	4	880	c.754C>T	c.(754-756)CGC>TGC	p.R252C	ATP2B3_uc004fhs.1_Missense_Mutation_p.R252C	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	252	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGACCACGTGCGCAAGTCAGC	0.657												
ATP2B3	492	broad.mit.edu	37	X	152845526	152845526	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:152845526C>T	uc004fht.1	+	20	3559	c.3433C>T	c.(3433-3435)CCC>TCC	p.P1145S	ATP2B3_uc004fhs.1_3'UTR|ATP2B3_uc010nuf.1_Missense_Mutation_p.P282S|ATP2B3_uc004fhu.1_Missense_Mutation_p.P97S	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	1145	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGGCCACGCCCGAGTTTCT	0.597												
ATP2B3	492	broad.mit.edu	37	X	152845618	152845618	+	Silent	SNP	G	G	C	rs143876864	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:152845618G>C	uc004fht.1	+	20	3651	c.3525G>C	c.(3523-3525)CCG>CCC	p.P1175P	ATP2B3_uc004fhs.1_3'UTR|ATP2B3_uc010nuf.1_Silent_p.P312P|ATP2B3_uc004fhu.1_Silent_p.P127P	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	1175	Cytoplasmic (Potential).|Poly-Pro.				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCCCCCCCGCCCCCGTCCC	0.597												
PNCK	139728	broad.mit.edu	37	X	152938067	152938067	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:152938067G>A	uc011myu.1	-	3	589	c.403C>T	c.(403-405)CGG>TGG	p.R135W	PNCK_uc011myt.1_Missense_Mutation_p.R69W|PNCK_uc004fia.2_Missense_Mutation_p.R64W|PNCK_uc004fhz.3_5'UTR|PNCK_uc010nuh.2_Missense_Mutation_p.R135W|PNCK_uc011myv.1_Missense_Mutation_p.R79W|PNCK_uc011myw.1_Missense_Mutation_p.R79W	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	pregnancy upregulated non-ubiquitously expressed	52	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCTTGCCCCGGAGGGCCTTC	0.657												
L1CAM	3897	broad.mit.edu	37	X	153130378	153130378	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153130378C>T	uc004fjb.2	-	22	3052	c.2944G>A	c.(2944-2946)GAT>AAT	p.D982N	L1CAM_uc004fjc.2_Missense_Mutation_p.D982N|L1CAM_uc010nuo.2_Missense_Mutation_p.D977N	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	982	Extracellular (Potential).|Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTGAGATCGGTCAGGTTG	0.622												
HCFC1	3054	broad.mit.edu	37	X	153218167	153218167	+	Silent	SNP	G	G	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153218167G>A	uc004fjp.2	-	19	5268	c.4740C>T	c.(4738-4740)TCC>TCT	p.S1580S		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1580					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTCTACTTCGGACTGTGTGG	0.642											OREG0003630	type=REGULATORY REGION|Gene=BC010606|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
MECP2	4204	broad.mit.edu	37	X	153297719	153297719	+	Missense_Mutation	SNP	G	G	A	rs61754456		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153297719G>A	uc004fjv.2	-	3	542	c.316C>T	c.(316-318)CGG>TGG	p.R106W	MECP2_uc004fjw.2_Missense_Mutation_p.R118W	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	106	MBD.		R -> Q (in RTT).		negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTAAGCTTCCGTGTCCAGCCT	0.557												
OPN1LW	5956	broad.mit.edu	37	X	153416216	153416216	+	Silent	SNP	C	C	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153416216C>A	uc004fjz.3	+	2	234	c.201C>A	c.(199-201)TCC>TCA	p.S67S		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	67	Helical; Name=1; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCACTGCATCCGTCTTCACAA	0.582												
TKTL1	8277	broad.mit.edu	37	X	153556271	153556271	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153556271C>T	uc004fkg.2	+	12	1771	c.1585C>T	c.(1585-1587)CGG>TGG	p.R529W	TKTL1_uc011mzl.1_Missense_Mutation_p.R523W|TKTL1_uc011mzm.1_Missense_Mutation_p.R325W|TKTL1_uc004fkh.2_Missense_Mutation_p.R473W	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	529					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACAGAGGGCCGGATCATTAC	0.478												
FLNA	2316	broad.mit.edu	37	X	153581805	153581805	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153581805A>G	uc004fkk.2	-	37	6130	c.5881T>C	c.(5881-5883)TCC>CCC	p.S1961P	FLNA_uc004fki.2_Missense_Mutation_p.S4P|FLNA_uc011mzn.1_Missense_Mutation_p.S94P|FLNA_uc010nuu.1_Missense_Mutation_p.S1953P	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1961	Filamin 18.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTAGGTGGGACATACGCATG	0.637												
FLNA	2316	broad.mit.edu	37	X	153595185	153595185	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153595185C>T	uc004fkk.2	-	6	1151	c.902G>A	c.(901-903)CGG>CAG	p.R301Q	FLNA_uc010nuu.1_Missense_Mutation_p.R301Q	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	301	Filamin 1.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAACTCTGCCCGCTTCTTCAC	0.647												
PLXNA3	55558	broad.mit.edu	37	X	153690582	153690582	+	Missense_Mutation	SNP	G	G	A	rs148672767		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153690582G>A	uc004flm.2	+	4	1422	c.1249G>A	c.(1249-1251)GTG>ATG	p.V417M		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	417	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGGCCAGCGTGGCCGCCTA	0.667												
F8	2157	broad.mit.edu	37	X	154133272	154133272	+	Silent	SNP	A	A	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:154133272A>G	uc004fmt.2	-	16	5571	c.5400T>C	c.(5398-5400)CGT>CGC	p.R1800R	F8_uc010nvi.1_Intron	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1800	F5/8 type A 3.|Plastocyanin-like 5.		R -> G (in HEMA; mild).|R -> H (in HEMA; moderate/severe).|R -> C (in HEMA; moderate).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGGAATAGGGACGAGAGGCCT	0.363												
SIGIRR	59307	broad.mit.edu	37	11	406540	406541	+	Splice_Site	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:406540_406541insG	uc001lpd.2	-	9	1210	c.880_splice	c.e9-1	p.T294_splice	SIGIRR_uc001lpf.2_Splice_Site_p.T294_splice|SIGIRR_uc001lpe.1_Splice_Site_p.T294_splice|SIGIRR_uc001lpg.2_Intron	NM_001135054	NP_001128526	Q6IA17	SIGIR_HUMAN	single Ig IL-1R-related molecule						acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity				0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAAGGAGTCTGGGGGCCAGGT	0.663												
HELB	92797	broad.mit.edu	37	12	66731962	66731962	+	RNA	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:66731962delA	uc010ssz.1	+	13		c.3448delA			HELB_uc009zqt.1_RNA			Q8NG08	HELB_HUMAN	Homo sapiens helicase B mRNA, complete cds.						DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GTACCAAGATAAAAAAAGTTT	0.294												
RBPJ	3516	broad.mit.edu	37	4	26321499	26321499	+	Translation_Start_Site	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:26321499delG	uc003grx.1	+	1	168	c.-68delG	c.(-70--66)ATGGG>ATGG		RBPJ_uc003gry.1_Frame_Shift_Del_p.M1fs|RBPJ_uc003grz.1_5'Flank|RBPJ_uc011bxt.1_5'Flank|RBPJ_uc003gsa.1_5'Flank|RBPJ_uc003gsb.1_5'Flank	NM_005349	NP_005340	Q06330	SUH_HUMAN	recombining binding protein suppressor of						DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)	3		Breast(46;0.0503)				GGGGAAAGATGGGGGGCTGCA	0.647												
COL11A1	1301	broad.mit.edu	37	1	103385868	103385868	+	Splice_Site	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:103385867_103385867CT>C	uc001dum.3	-	49	4116	c.3798_splice	c.e49+1	p.K1266_splice	COL11A1_uc001duk.3_Splice_Site_p.K450_splice|COL11A1_uc001dul.3_Splice_Site_p.K1254_splice|COL11A1_uc001dun.3_Splice_Site_p.K1215_splice|COL11A1_uc009weh.3_Splice_Site_p.K1138_splice	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1254	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACATATTTACCTTTTCTCCAA	0.368												
ITGA10	8515	broad.mit.edu	37	1	145537735	145537736	+	Splice_Site	DEL	AG	AG	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:145537734_145537735CAG>C	uc001eoa.3	+	21	2651	c.2575_splice	c.e21-2	p.R859_splice	ITGA10_uc010oyv.2_Splice_Site_p.R728_splice|ITGA10_uc009wiw.3_Splice_Site_p.R716_splice|ITGA10_uc010oyw.2_Splice_Site_p.R804_splice	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	859					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCCTGCCCTCAGAGAGAGAGC	0.579												
ASPM	259266	broad.mit.edu	37	1	197091176	197091176	+	Splice_Site	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:197091175_197091175TA>T	uc001gtu.3	-	16	3999	c.3742_splice	c.e16-1	p.V1248_splice	ASPM_uc001gtv.3_Splice_Site_p.V1248_splice|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1248					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATAACCACCTAAAAAAAACC	0.303												
PREPL	9581	broad.mit.edu	37	2	44550553	44550553	+	Splice_Site	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAAGGTGCCTAAAAAAAAGG	0.333												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348												
TRIP12	9320	broad.mit.edu	37	2	230668408	230668408	+	Splice_Site	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:230668407_230668407TA>T	uc002vpx.1	-	20	2908	c.2799_splice	c.e20-1	p.S933_splice	TRIP12_uc021vxw.1_Splice_Site_p.S918_splice|TRIP12_uc002vpy.1_Splice_Site_p.S615_splice|TRIP12_uc002vpw.1_Splice_Site_p.S885_splice|TRIP12_uc010zlz.1_Intron	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	885					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GCAATGTGACTAAAAAAAGAA	0.343												
SCLT1	132320	broad.mit.edu	37	4	129964625	129964625	+	Splice_Site	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:129964624_129964624TA>T	uc003igp.2	-	4	668	c.162_splice	c.e4-1	p.S54_splice	SCLT1_uc003igq.2_Splice_Site_p.S54_splice|SCLT1_uc010iob.1_Splice_Site_p.S54_splice|SCLT1_uc003igr.2_Splice_Site_p.S54_splice|SCLT1_uc003igt.4_Splice_Site_p.S54_splice	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	54						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GCTAAAAAGCTAAAAAAAGAC	0.269												
SFRP4	6424	broad.mit.edu	37	7	37953883	37953883	+	Splice_Site	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:37953882_37953882TA>T	uc003tfo.4	-	3	913	c.527_splice	c.e3-1	p.D176_splice		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	Homo sapiens secreted frizzled-related protein 4 (SFRP4), mRNA.	176					Wnt receptor signaling pathway|brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of JNK cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGCACCGATCTAAAAAAGGCA	0.428												
MAGI2	9863	broad.mit.edu	37	7	77764526	77764526	+	Splice_Site	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:77764525_77764525TA>T	uc003ugx.3	-	17	3100	c.2846_splice	c.e17-1	p.T949_splice	MAGI2_uc003ugy.3_Splice_Site_p.T935_splice|MAGI2_uc010ldx.1_Splice_Site_p.T542_splice	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	949	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGGGCACAGCTAAAAAAACCC	0.458												
SF3B2	10992	broad.mit.edu	37	11	65836146	65836146	+	Splice_Site	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65836145_65836145CA>C	uc001ogy.1	+	22	2657	c.2617_splice	c.e22-1	p.Q873_splice	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.2_5'Flank	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	873					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCTATACAGCAAAAAAAACG	0.512											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DDX6	1656	broad.mit.edu	37	11	118629614	118629614	+	Splice_Site	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:118629613_118629613TG>T	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAG	0.423			T	IGH@	B-NHL							
ATXN2	6311	broad.mit.edu	37	12	111924631	111924631	+	Splice_Site	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:111924630_111924630TA>T	uc001tsj.3	-	16	2883	c.2721_splice	c.e16-1	p.E907_splice	ATXN2_uc001tsh.3_Splice_Site_p.E642_splice|ATXN2_uc001tsi.3_Splice_Site_p.E618_splice|ATXN2_uc001tsk.3_Splice_Site	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	907					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CTAACTTGCCTAAAAAAAATA	0.333												
PIGB	9488	broad.mit.edu	37	15	55621922	55621922	+	Splice_Site	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:55621921_55621921GT>G	uc002act.3	+	5	839	c.523_splice	c.e5-1	p.F175_splice	PIGB_uc010ugg.2_Splice_Site	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	175					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTTTTTCTTAGTTTTTTTGCC	0.343												
TTC23	64927	broad.mit.edu	37	15	99740304	99740304	+	Splice_Site	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:99740303_99740303TA>T	uc002bur.3	-	8	1113	c.582_splice	c.e8-1	p.Q194_splice	TTC23_uc002bus.3_Splice_Site_p.Q194_splice|TTC23_uc002but.3_Splice_Site_p.Q194_splice|TTC23_uc002buu.3_Splice_Site_p.Q194_splice|TTC23_uc002buv.3_Splice_Site_p.Q194_splice|TTC23_uc002bux.3_Splice_Site_p.Q194_splice|TTC23_uc002buw.3_Splice_Site_p.Q194_splice|TTC23_uc010boq.3_Splice_Site|TTC23_uc002buy.3_Splice_Site_p.Q194_splice|TTC23_uc010bor.3_Splice_Site_p.Q194_splice|TTC23_uc002buz.2_Splice_Site_p.Q194_splice	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA.	194							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TGATACACCCTAAAAAAATCA	0.348												
GP1BA	2811	broad.mit.edu	37	17	4837373	4837373	+	RNA	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:4837372_4837372CA>C	uc021toc.1	-	0		c.485_485TG>G			GP1BA_uc021tnz.1_Frame_Shift_Del_p.T491fs|GP1BA_uc021toa.1_5'Flank|GP1BA_uc021tob.1_Frame_Shift_Del_p.T491fs			E7ES66	E7ES66_HUMAN	Synthetic construct clone IMAGE:100003573; FLH167768.01X; RZPDo839F0190D glycoprotein Ib (platelet), alpha polypeptide (GP1BA) gene, encodes complete protein.											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TAGAATCCACCAAAAAAACCA	0.502												
L3MBTL4	91133	broad.mit.edu	37	18	6241451	6241451	+	Splice_Site	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:6241450_6241450TA>T	uc002kmz.4	-	8	621	c.461_splice	c.e8-1	p.G154_splice	L3MBTL4_uc002kmy.4_Splice_Site_p.G154_splice|L3MBTL4_uc010dkt.3_Splice_Site_p.G154_splice	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	154					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTCTATAACCTAAAAAAAGCA	0.323												
MATK	4145	broad.mit.edu	37	19	3778509	3778509	+	Splice_Site	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:3778508_3778508AT>A	uc002lyt.3	-	13	1684	c.1284_splice	c.e13+1	p.M428_splice	MATK_uc002lyv.3_Splice_Site_p.M429_splice|MATK_uc002lyu.3_Splice_Site_p.M387_splice|MATK_uc010dtq.3_Splice_Site_p.M427_splice	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	428	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGCTCACCATTTTAGGGTA	0.627												
ALG12	79087	broad.mit.edu	37	22	50302891	50302891	+	Splice_Site	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50302890_50302890AC>A	uc003biy.3	-	6	1042	c.768_splice	c.e6+1	p.G256_splice		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	256					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		ACTGAAGGATACCCCCCAGTT	0.572												
AGRN	375790	broad.mit.edu	37	1	980571	980571	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:980571delC	uc001ack.1	+	13	2335	c.2285delC	c.(2284-2286)GCCfs	p.A762fs		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	762					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCGCCTGTGGCCCCCTTACAC	0.672												
TAS1R3	83756	broad.mit.edu	37	1	1266835	1266836	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:1266835_1266836insG	uc010nyk.1	+	1	110_111	c.110_111insG	c.(109-111)CTGfs	p.L37fs		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	37	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GACTACGTGCTGGGGGGGCTGT	0.693												
DVL1	1855	broad.mit.edu	37	1	1273478	1273478	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:1273478delG	uc001aer.3	-	14	1565	c.1518delC	c.(1516-1518)CCCfs	p.P506fs	DVL1_uc002quu.2_Frame_Shift_Del_p.P248fs|DVL1_uc009vka.2_Frame_Shift_Del_p.P189fs|DVL1_uc001aeu.1_Frame_Shift_Del_p.P265fs	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	531					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCAGAGGCCAGGGGGCAGCCG	0.692												
RERE	473	broad.mit.edu	37	1	8415652	8415652	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:8415652delG	uc001ape.2	-	23	5304	c.4494delC	c.(4492-4494)CCCfs	p.P1498fs	RERE_uc001apf.2_Frame_Shift_Del_p.P1498fs|RERE_uc001apd.2_Frame_Shift_Del_p.P944fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1498	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1498L(1)		ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CACGGGGGTAGGGGGTGCCTG	0.642												
MASP2	10747	broad.mit.edu	37	1	11107023	11107023	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:11107023delG	uc001aru.2	-	2	180	c.159delC	c.(157-159)CCCfs	p.P53fs	MASP2_uc001arv.2_Frame_Shift_Del_p.P53fs|MASP2_uc001arw.2_Frame_Shift_Del_p.P53fs|MASP2_uc001arx.1_Frame_Shift_Del_p.P53fs	NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform	53	CUB 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GGCGGTAGCCGGGGGGTGCAG	0.662												
C1QA	712	broad.mit.edu	37	1	22965826	22965826	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:22965826delA	uc001bfy.2	+	3	749	c.664delA	c.(664-666)AAAfs	p.K222fs	C1QA_uc001bfz.2_Frame_Shift_Del_p.K222fs	NM_015991	NP_057075	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	222	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAAAGACCCCAAAAAGGGTCA	0.597												
ARID1A	8289	broad.mit.edu	37	1	27106804	27106804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:27106804delC	uc001bmv.1	+	20	6788	c.6415delC	c.(6415-6417)CCCfs	p.P2139fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.P1922fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.P985fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.P467fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.P381fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2139					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.F2141fs*59(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCTGGCCACACCCCCCTTCAG	0.587			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
EPB41	2035	broad.mit.edu	37	1	29379717	29379717	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:29379717delA	uc001brm.1	+	11	1745	c.1738delA	c.(1738-1740)AAAfs	p.K580fs	EPB41_uc001brg.1_Frame_Shift_Del_p.K371fs|EPB41_uc001brh.1_Frame_Shift_Del_p.K371fs|EPB41_uc001bri.1_Frame_Shift_Del_p.K545fs|EPB41_uc001brj.1_Frame_Shift_Del_p.K371fs|EPB41_uc009vtk.1_Frame_Shift_Del_p.K544fs|EPB41_uc001brk.2_Frame_Shift_Del_p.K580fs|EPB41_uc001brl.1_Frame_Shift_Del_p.K580fs|EPB41_uc009vtl.1_Frame_Shift_Del_p.K371fs|EPB41_uc009vtm.1_Frame_Shift_Del_p.K213fs	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	580	Hydrophilic.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TGCCTCTGCTAAAAAAACAGT	0.542												
HDAC1	3065	broad.mit.edu	37	1	32797831	32797833	+	In_Frame_Del	DEL	GAG	GAG	-	rs146747999	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:32797831_32797833delGAG	uc001bvb.1	+	12	1423_1425	c.1360_1362delGAG	c.(1360-1362)GAGdel	p.E455del	HDAC1_uc010ohf.1_In_Frame_Del_p.E426del|HDAC1_uc001bvc.1_In_Frame_Del_p.E211del	NM_004964	NP_004955	Q13547	HDAC1_HUMAN	histone deacetylase 1	455				Missing: Strongly decreases deacetylase activity, and disrupts interaction with NuRD and SIN3 complexes.	anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)	3		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	GAAAGACCCAGAGGAGAAGAAAG	0.527												
COL8A2	1296	broad.mit.edu	37	1	36564489	36564489	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:36564489delC	uc001bzv.1	-	2	800	c.793delG	c.(793-795)GAGfs	p.E265fs	COL8A2_uc001bzw.1_Frame_Shift_Del_p.E200fs	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2 precursor	265	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTCCTGGCTCCCCCCTGGGG	0.657												
KIAA0467	23334	broad.mit.edu	37	1	43914072	43914072	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:43914072delG	uc001cjk.1	+	54	7651	c.7189delG	c.(7189-7191)GGGfs	p.G2397fs	KIAA0467_uc001cjl.1_Frame_Shift_Del_p.G385fs	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	3296						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACTGCGGCTAGGGGGGCGCCT	0.652												
HOOK1	51361	broad.mit.edu	37	1	60314140	60314140	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:60314140delA	uc009wad.2	+	12	1185	c.1083delA	c.(1081-1083)TTAfs	p.L361fs	HOOK1_uc001czo.2_Frame_Shift_Del_p.L361fs|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Frame_Shift_Del_p.L319fs	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	361	Potential.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)					AAGAAGAATTAAAAAAAGCAA	0.318												
KANK4	163782	broad.mit.edu	37	1	62740427	62740427	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:62740427delG	uc001dah.3	-	3	726	c.349delC	c.(349-351)CAGfs	p.Q117fs	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	117										ovary(3)|skin(2)|lung(1)	6						GTTGAGGCCTGGGGGGCATTA	0.607												
FAM73A	374986	broad.mit.edu	37	1	78326950	78326950	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:78326950delT	uc001dhx.2	+	12	1349	c.1317delT	c.(1315-1317)TATfs	p.Y439fs	FAM73A_uc010ork.1_Frame_Shift_Del_p.Y439fs|FAM73A_uc010orl.1_Frame_Shift_Del_p.Y401fs|FAM73A_uc001dhy.1_3'UTR	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	439						integral to membrane				ovary(1)	1				Colorectal(170;0.226)		AAATGATCTATTTTTTAGAGC	0.308												
DNTTIP2	30836	broad.mit.edu	37	1	94335461	94335461	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:94335461delT	uc001dqf.2	-	7	2255	c.2217delA	c.(2215-2217)AAAfs	p.K739fs	DNTTIP2_uc010otm.1_RNA	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CATTTGCTGCTTTTTCAGCCA	0.328												
CDC14A	8556	broad.mit.edu	37	1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:100889837delC	uc001dtg.3	+	5	857	c.369delC	c.(367-369)AACfs	p.N123fs	CDC14A_uc009web.2_RNA|CDC14A_uc010oui.1_Frame_Shift_Del_p.N65fs|CDC14A_uc001dte.3_Frame_Shift_Del_p.N123fs|CDC14A_uc001dtf.2_Frame_Shift_Del_p.N123fs|CDC14A_uc009wed.1_5'UTR|CDC14A_uc009wee.2_Frame_Shift_Del_p.N123fs	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN	CDC14 homolog A isoform 1	123	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)	1		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CTGGCTCAAACCCCCCCTATC	0.403												
ADORA3	140	broad.mit.edu	37	1	112045810	112045811	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:112045810_112045811insT	uc001ebh.3	-	1	933_934	c.166_167insA	c.(166-168)CTGfs	p.L56fs	ADORA3_uc001ebg.3_Intron|ADORA3_uc001ebf.2_Frame_Shift_Ins_p.L56fs	NM_000677	NP_000668	P33765	AA3R_HUMAN	adenosine A3 receptor isoform 2	56	Helical; Name=2; (By similarity).				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			ovary(2)|large_intestine(1)|skin(1)	4		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AATGTCAGCCAGGGCTAGAGAG	0.535												
MOV10	4343	broad.mit.edu	37	1	113243060	113243060	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:113243060delC	uc001eck.2	+	21	3213	c.2943delC	c.(2941-2943)CTCfs	p.L981fs	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Frame_Shift_Del_p.L981fs|MOV10_uc001ecm.2_Frame_Shift_Del_p.L921fs	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	981					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ATGACTACCTCCCCCAGGAGC	0.612												
MAGI3	260425	broad.mit.edu	37	1	114216007	114216007	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:114216007delG	uc001edk.2	+	19	3290	c.3109delG	c.(3109-3111)GGGfs	p.G1037fs	MAGI3_uc001edh.3_Frame_Shift_Del_p.G1062fs|MAGI3_uc001edi.3_Frame_Shift_Del_p.G1037fs|MAGI3_uc010owm.1_Frame_Shift_Del_p.G1062fs|MAGI3_uc001edj.2_Frame_Shift_Del_p.G758fs	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	1062	PDZ 6.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCCTCCGAGGGGGGAAGGA	0.488												
ANKRD34A	284615	broad.mit.edu	37	1	145473439	145473439	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:145473439delG	uc001enq.1	+	4	1404	c.111delG	c.(109-111)CAGfs	p.Q37fs	NBPF10_uc001emp.3_Intron	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	37	ANK 2.										0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGATGCGCAGGGGGAGACTG	0.657												
DENND4B	9909	broad.mit.edu	37	1	153911461	153911462	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:153911461_153911462delTG	uc001fdd.1	-	13	2280_2281	c.1879_1880delCA	c.(1879-1881)CAGfs	p.Q627fs		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	627	dDENN.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGAGAACATCTGTGTGTGCAGC	0.515												
ARHGEF11	9826	broad.mit.edu	37	1	156926350	156926350	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156926350delG	uc001fqo.2	-	18	2453	c.1413delC	c.(1411-1413)CCCfs	p.P471fs	ARHGEF11_uc001fqn.2_Frame_Shift_Del_p.P511fs|ARHGEF11_uc001fqp.1_5'UTR	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	471	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGAAGTCCATGGGGGCGCTGT	0.537												
MNDA	4332	broad.mit.edu	37	1	158813814	158813814	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:158813814delC	uc001fsz.1	+	4	672	c.472delC	c.(472-474)CCCfs	p.P158fs		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	158					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					GCAGAGTAAGCCCCCAGGTCC	0.463												
KCNJ9	3765	broad.mit.edu	37	1	160057324	160057324	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:160057324delG	uc001fuy.1	+	3	1141	c.899delG	c.(898-900)TGGfs	p.W300fs		NM_004983	NP_004974	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel subfamily	300	Cytoplasmic (By similarity).				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			ovary(1)|skin(1)	2	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGGTGCTGTGGGGCCACCGC	0.602												
HSPA6	3310	broad.mit.edu	37	1	161495465	161495465	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:161495465delG	uc001gap.2	+	2	1677	c.1017delG	c.(1015-1017)GTGfs	p.V339fs	HSPA6_uc001gaq.2_Frame_Shift_Del_p.V339fs	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	339					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCGTCCTGGTGGGGGGCTCCA	0.602												
RASAL2	9462	broad.mit.edu	37	1	178412033	178412033	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:178412033delA	uc001glr.2	+	6	832	c.707delA	c.(706-708)GAAfs	p.E236fs	RASAL2_uc001glq.2_Frame_Shift_Del_p.E384fs	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	236	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						AAGGATGTGGAAAAAAAGAAA	0.403												
CFHR1	3078	broad.mit.edu	37	1	196799650	196799650	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:196799650delC	uc001gtn.2	+	5	742	c.628delC	c.(628-630)CCCfs	p.P210fs	CFHR1_uc001gtm.2_Frame_Shift_Del_p.P114fs	NM_002113	NP_002104	Q03591	FHR1_HUMAN	complement factor H-related 1 precursor	210	Sushi 4.				complement activation	extracellular space					0						AAAATGTGGGCCCCCTCCACC	0.383												
PIK3C2B	5287	broad.mit.edu	37	1	204416659	204416660	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:204416659_204416660insG	uc001haw.2	-	16	2872_2873	c.2393_2394insC	c.(2392-2394)CCTfs	p.P798fs	PIK3C2B_uc010pqv.1_Frame_Shift_Ins_p.P798fs	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	798					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ACTTGTCTCCAGGGGGGCTGGT	0.545												
RYR2	6262	broad.mit.edu	37	1	237617790	237617790	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:237617790delC	uc001hyl.1	+	15	1512	c.1392delC	c.(1390-1392)CACfs	p.H464fs		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	464	Cytoplasmic (By similarity).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTACTTCCACCCCCCAGATG	0.493												
ADSS	159	broad.mit.edu	37	1	244587345	244587345	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:244587345delT	uc001iaj.2	-	6	785	c.491delA	c.(490-492)AAGfs	p.K164fs	ADSS_uc009xgr.1_RNA	NM_001126	NP_001117	P30520	PURA2_HUMAN	adenylosuccinate synthase	164					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(2)|kidney(1)	3	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	GCCAATGCCCTTTTTTGTTGT	0.418												
ZNF692	55657	broad.mit.edu	37	1	249149644	249149645	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:249149644_249149645delTT	uc001ifc.1	-	9	1139_1140	c.972_973delAA	c.(970-975)AAAAGAfs	p.K324fs	ZNF692_uc001iez.1_Frame_Shift_Del_p.K46fs|ZNF692_uc001ifa.1_Frame_Shift_Del_p.K46fs|ZNF692_uc001ifb.1_Frame_Shift_Del_p.K120fs|ZNF692_uc001ifd.1_Frame_Shift_Del_p.K323fs|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Frame_Shift_Del_p.K279fs|ZNF692_uc010pzr.1_Frame_Shift_Del_p.K329fs	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 2	324_325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ATCAGCTCTCTTTTGGCAGCTT	0.579												
KIN	22944	broad.mit.edu	37	10	7801876	7801876	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:7801876delA	uc001ijt.2	-	12	1144	c.1096delT	c.(1096-1098)TCAfs	p.S366fs	KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Intron|KIN_uc010qba.1_Frame_Shift_Del_p.S260fs	NM_012311	NP_036443	O60870	KIN17_HUMAN	HsKin17 protein	366	C-terminal subdomain B.				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ATAGTAGCTGAAAAAGTCTTC	0.303												
GATA3	2625	broad.mit.edu	37	10	8100728	8100728	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:8100728delC	uc001ika.2	+	3	1259	c.702delC	c.(700-702)TTCfs	p.F234fs	GATA3_uc001ijz.2_Frame_Shift_Del_p.F234fs	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	234					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						CCGGACTCTTCCCCCCCAGCA	0.697			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)					
CCDC7	221016	broad.mit.edu	37	10	32740643	32740643	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:32740643delG	uc001iwj.2	+	2	643	c.73delG	c.(73-75)GGAfs	p.G25fs	CCDC7_uc009xlu.1_RNA|CCDC7_uc001iwk.2_Frame_Shift_Del_p.G25fs|CCDC7_uc009xlv.2_RNA|CCDC7_uc009xlw.1_RNA|CCDC7_uc009xlx.1_Frame_Shift_Del_p.G25fs|CCDC7_uc009xly.1_RNA	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	25											0		Breast(68;0.000207)|Prostate(175;0.0107)				TACTAAAAAAGGACTACATAA	0.343												
ZNF248	57209	broad.mit.edu	37	10	38121593	38121593	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:38121593delA	uc001izd.1	-	6	1189	c.690delT	c.(688-690)TTTfs	p.F230fs	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Frame_Shift_Del_p.F230fs	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCTTATTTGTAAAAAATGCTG	0.363												
FAM35A	54537	broad.mit.edu	37	10	88911220	88911220	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:88911220delA	uc001kei.3	+	3	223	c.109delA	c.(109-111)AAAfs	p.K37fs		NM_019054	NP_061927	Q86V20	FA35A_HUMAN	hypothetical protein LOC54537	37										ovary(2)|skin(2)	4						TGACCCCTGGAAAAAAATTCA	0.368												
CNNM1	26507	broad.mit.edu	37	10	101089318	101089318	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:101089318delG	uc001kpp.3	+	1	463	c.174delG	c.(172-174)GAGfs	p.E58fs	CNNM1_uc009xwe.2_Frame_Shift_Del_p.E58fs|CNNM1_uc010qpi.1_Frame_Shift_Del_p.E58fs|CNNM1_uc009xwf.2_Frame_Shift_Del_p.E58fs	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	58					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TGTCCCTGGAGGGGGGCACCC	0.632												
HIF1AN	55662	broad.mit.edu	37	10	102306303	102306303	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:102306303delG	uc001krj.3	+	6	934	c.859delG	c.(859-861)GGGfs	p.G287fs		NM_017902	NP_060372	Q9NWT6	HIF1N_HUMAN	hypoxia-inducible factor 1, alpha subunit	287	JmjC.|Interaction with HIF1A.|Interaction with VHL.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding				0		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		ATTACTAAATGGGGGGATTAC	0.463												
NFKB2	4791	broad.mit.edu	37	10	104161207	104161207	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:104161207delT	uc001kvb.2	+	20	2490	c.2225delT	c.(2224-2226)GTGfs	p.V742fs	NFKB2_uc001kva.2_Frame_Shift_Del_p.V742fs|NFKB2_uc001kvd.2_Frame_Shift_Del_p.V742fs|NFKB2_uc009xxc.2_Frame_Shift_Del_p.V742fs	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	742	ANK 7.		Missing (in truncated form p80HT).|Missing (in truncated form LB40).|Missing (in truncated form EB308).		innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		TCTCCCCAGGTGAAGACCTTG	0.582			T	IGH@	B-NHL							
PSD	5662	broad.mit.edu	37	10	104175781	104175781	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:104175781delG	uc001kvg.1	-	3	1277	c.750delC	c.(748-750)CCCfs	p.P250fs	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Frame_Shift_Del_p.P250fs	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	250					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TACCTGAGCTGGGGGGGTCCA	0.607												
INPP5F	22876	broad.mit.edu	37	10	121558113	121558114	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:121558113_121558114insA	uc001leo.2	+	9	1273_1274	c.1107_1108insA	c.(1105-1110)TACAAAfs	p.Y369fs		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	369_370	SAC.						phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TGAACATTTACAAAAAACAGGT	0.302												
TACC2	10579	broad.mit.edu	37	10	123970582	123970582	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:123970582delC	uc001lfv.2	+	9	7002	c.6642delC	c.(6640-6642)GTCfs	p.V2214fs	TACC2_uc001lfw.2_Frame_Shift_Del_p.V360fs|TACC2_uc009xzx.2_Frame_Shift_Del_p.V2169fs|TACC2_uc010qtv.1_Frame_Shift_Del_p.V2218fs|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Frame_Shift_Del_p.V292fs|TACC2_uc001lga.2_Frame_Shift_Del_p.V292fs|TACC2_uc009xzy.2_Frame_Shift_Del_p.V292fs|TACC2_uc001lgb.2_Frame_Shift_Del_p.V249fs|TACC2_uc010qtw.1_Frame_Shift_Del_p.V309fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2214						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGGGGTTGTCCCCCCGGCTT	0.642												
KNDC1	85442	broad.mit.edu	37	10	135015044	135015044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:135015044delC	uc001llz.1	+	17	3030	c.3029delC	c.(3028-3030)GCCfs	p.A1010fs	KNDC1_uc001lma.1_Frame_Shift_Del_p.A945fs|KNDC1_uc001lmb.1_Frame_Shift_Del_p.A422fs	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1010					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGCAGCAGGGCCCCCTGCTCA	0.627												
SIGIRR	59307	broad.mit.edu	37	11	406540	406541	+	Splice_Site	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:406540_406541insG	uc001lpd.2	-	9	1210	c.880_splice	c.e9-1	p.T294_splice	SIGIRR_uc001lpf.2_Splice_Site_p.T294_splice|SIGIRR_uc001lpe.1_Splice_Site_p.T294_splice|SIGIRR_uc001lpg.2_Intron	NM_001135054	NP_001128526	Q6IA17	SIGIR_HUMAN	single Ig IL-1R-related molecule						acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity				0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAAGGAGTCTGGGGGCCAGGT	0.663												
TPP1	1200	broad.mit.edu	37	11	6636152	6636152	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:6636152delG	uc001mel.1	-	12	1557	c.1496delC	c.(1495-1497)CCTfs	p.P499fs	TAF10_uc001mej.1_5'Flank|TPP1_uc001mek.1_Frame_Shift_Del_p.P256fs	NM_000391	NP_000382	O14773	TPP1_HUMAN	tripeptidyl-peptidase I preproprotein	499					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		AAAGCCAAGAGGGGGGCGGCC	0.517												
CTR9	9646	broad.mit.edu	37	11	10776596	10776596	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:10776596delA	uc001mja.2	+	3	385	c.236delA	c.(235-237)GAAfs	p.E79fs		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	79					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGAGACCATGAAAAAGACCAG	0.373												
FNBP4	23360	broad.mit.edu	37	11	47746087	47746087	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:47746087delG	uc009ylv.2	-	13	2405	c.2252delC	c.(2251-2253)CCTfs	p.P751fs	FNBP4_uc001ngi.2_Frame_Shift_Del_p.P65fs|FNBP4_uc001ngj.2_Frame_Shift_Del_p.P658fs|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	751										ovary(1)	1						TCCTGGGGCAGGGGGCTCCTC	0.428												
OR5M3	219482	broad.mit.edu	37	11	56237709	56237709	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:56237709delT	uc010rjk.1	-	1	265	c.265delA	c.(265-267)ACAfs	p.T89fs		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TAAGTAATTGTTTTTTTATCT	0.363												
OR5M8	219484	broad.mit.edu	37	11	56258665	56258665	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:56258665delA	uc001nix.1	-	1	182	c.182delT	c.(181-183)TTCfs	p.F61fs		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					GTGGCTCAGGAAAAAGTACAT	0.488												
LRRC55	219527	broad.mit.edu	37	11	56949609	56949610	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:56949609_56949610insC	uc001njl.1	+	1	389_390	c.242_243insC	c.(241-243)TGCfs	p.C81fs		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	51	LRRNT.					integral to membrane					0						GGCACCAGCTGCCCCGTCCTTT	0.649												
P2RX3	5024	broad.mit.edu	37	11	57116158	57116158	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:57116158delC	uc001nju.2	+	6	619	c.543delC	c.(541-543)TTCfs	p.F181fs		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	181	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						GCATCCGTTTCCCCCTCTTCA	0.527												
LGALS12	85329	broad.mit.edu	37	11	63283775	63283775	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:63283775delG	uc001nxa.2	+	9	1262	c.921delG	c.(919-921)CTGfs	p.L307fs	LGALS12_uc001nxb.2_Frame_Shift_Del_p.L298fs|LGALS12_uc001nxc.2_Frame_Shift_Del_p.L308fs|LGALS12_uc001nxd.2_Frame_Shift_Del_p.L246fs|LGALS12_uc001nxe.2_Frame_Shift_Del_p.L237fs|LGALS12_uc009yot.2_Frame_Shift_Del_p.L267fs	NM_033101	NP_149092	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12 isoform	307	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			ovary(2)	2						GGCAGGGGCTGGGGGCCACCA	0.632												
PYGM	5837	broad.mit.edu	37	11	64520597	64520597	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:64520597delG	uc001oax.3	-	12	2283	c.1466delC	c.(1465-1467)CCTfs	p.P489fs	PYGM_uc001oay.3_Frame_Shift_Del_p.P401fs	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	489					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	CCAGCGCCGAGGGGTGATGCC	0.582												
SLC25A45	283130	broad.mit.edu	37	11	65144465	65144465	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65144465delG	uc001odp.1	-	5	844	c.422delC	c.(421-423)CCAfs	p.P141fs	SLC25A45_uc009yqi.1_Frame_Shift_Del_p.P79fs|SLC25A45_uc001odq.1_Frame_Shift_Del_p.P117fs|SLC25A45_uc001odr.1_Frame_Shift_Del_p.P141fs|SLC25A45_uc001ods.1_Frame_Shift_Del_p.P99fs|SLC25A45_uc001odt.1_Frame_Shift_Del_p.P99fs	NM_001077241	NP_001070709	Q8N413	S2545_HUMAN	solute carrier family 25, member 45 isoform b	141	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						GTACCGGGGTGGGGGGCTCCC	0.647												
CTSW	1521	broad.mit.edu	37	11	65650873	65650873	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65650873delG	uc001ogc.1	+	9	1040	c.998delG	c.(997-999)TGGfs	p.W333fs	CTSW_uc001ogb.1_Frame_Shift_Del_p.W333fs	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	333					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		AAGAACTCCTGGGGGGCCCAA	0.597												
PC	5091	broad.mit.edu	37	11	66617432	66617432	+	Frame_Shift_Del	DEL	C	C	-	rs1131855		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:66617432delC	uc001ojn.1	-	18	2923	c.2874delG	c.(2872-2874)GGGfs	p.G958fs	PC_uc001ojo.1_Frame_Shift_Del_p.G958fs|PC_uc001ojp.1_Frame_Shift_Del_p.G958fs|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	958					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTTCGGGGAACCCCCCATGGG	0.632												
LRFN4	78999	broad.mit.edu	37	11	66627324	66627324	+	Frame_Shift_Del	DEL	G	G	-	rs142190580		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:66627324delG	uc001ojr.2	+	2	1906	c.1566delG	c.(1564-1566)GTGfs	p.V522fs	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	522	Helical; (Potential).					integral to membrane					0						CCGTGGCCGTGGGGGGTGTGC	0.716												
C2CD3	26005	broad.mit.edu	37	11	73829364	73829364	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:73829364delT	uc001ouu.2	-	9	1656	c.1429delA	c.(1429-1431)ATAfs	p.I477fs	C2CD3_uc001ouv.2_Frame_Shift_Del_p.I477fs	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	477						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					GACTGGCTTATTTTTTTAGAA	0.433												
POLD3	10714	broad.mit.edu	37	11	74336575	74336575	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:74336575delA	uc001ovf.1	+	8	931	c.856delA	c.(856-858)AAAfs	p.K286fs	POLD3_uc009yua.1_Frame_Shift_Del_p.K180fs	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	DNA-directed DNA polymerase delta 3	286					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			kidney(2)|ovary(1)	3	Breast(11;3.21e-06)					AAAATCCAGCAAAAAAGCAGA	0.448												
ZBTB16	7704	broad.mit.edu	37	11	113934299	113934300	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:113934299_113934300insA	uc001pop.2	+	2	541_542	c.277_278insA	c.(277-279)CAAfs	p.Q93fs	ZBTB16_uc001poo.1_Frame_Shift_Ins_p.Q93fs|ZBTB16_uc001poq.2_Frame_Shift_Ins_p.Q93fs	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	93	BTB.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGCCACGCTGCAAGCCAAGGCG	0.535												
TTC36	143941	broad.mit.edu	37	11	118399370	118399370	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:118399370delG	uc001ptg.1	+	2	171	c.171delG	c.(169-171)CAGfs	p.Q57fs	TTC36_uc010ryb.1_RNA|TTC36_uc010ryc.1_5'UTR|TMEM25_uc010ryd.1_5'Flank|TMEM25_uc001ptk.3_5'Flank|TMEM25_uc010rye.1_5'Flank|TMEM25_uc001pth.2_5'Flank|TMEM25_uc009zad.2_5'Flank|TMEM25_uc001pti.2_5'Flank|TMEM25_uc010ryf.1_5'Flank|TMEM25_uc001ptl.2_5'Flank|TMEM25_uc001ptm.2_5'Flank	NM_001080441	NP_001073910	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	57	TPR 1.						binding				0						TGGAGCTGCAGGGGGTGATGG	0.607												
MFRP	83552	broad.mit.edu	37	11	119213688	119213688	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:119213688delG	uc001pwj.2	-	10	1310	c.1150delC	c.(1150-1152)CACfs	p.H384fs	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Frame_Shift_Del_p.P308fs	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GAGACGAGGTGGGGGGGTGGC	0.622												
OAF	220323	broad.mit.edu	37	11	120097608	120097608	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:120097608delG	uc001pxb.2	+	3	691	c.450delG	c.(448-450)CAGfs	p.Q150fs		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	OAF homolog precursor	150											0		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		ACTTCAGCCAGGGGGCCCTGC	0.627												
GALNT8	26290	broad.mit.edu	37	12	4829850	4829850	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:4829850delT	uc001qne.1	+	1	99	c.7delT	c.(7-9)TTTfs	p.F3fs		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	3	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4						GAAGATGATGTTTTGGAGGAA	0.473												
CHD4	1108	broad.mit.edu	37	12	6701672	6701672	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:6701672delT	uc001qpo.2	-	19	2999	c.2835delA	c.(2833-2835)AAAfs	p.K945fs	CHD4_uc001qpn.2_Frame_Shift_Del_p.K938fs|CHD4_uc001qpp.2_Frame_Shift_Del_p.K942fs	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	945					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TGTCATGCAGTTTTTTTATCT	0.458												
OR9K2	441639	broad.mit.edu	37	12	55524393	55524393	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:55524393delT	uc010spe.1	+	1	841	c.841delT	c.(841-843)TTTfs	p.F281fs		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K,	281	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						TGGTGCTGTCTTTTTTATGTA	0.448												
IKZF4	64375	broad.mit.edu	37	12	56418877	56418877	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:56418877delC	uc001sjb.1	+	4	380	c.221delC	c.(220-222)GCCfs	p.A74fs	IKZF4_uc010sqa.1_Frame_Shift_Del_p.A27fs|IKZF4_uc001sjc.1_Frame_Shift_Del_p.A74fs|IKZF4_uc001sjd.1_5'UTR|IKZF4_uc009zoi.1_Frame_Shift_Del_p.A29fs|IKZF4_uc001sje.1_Frame_Shift_Del_p.A33fs	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	zinc finger protein, subfamily 1A, 4	74					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTCCTCGGGGCCCCAGTGGGG	0.587												
MBD6	114785	broad.mit.edu	37	12	57919294	57919295	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:57919294_57919295insG	uc001soj.1	+	6	767_768	c.543_544insG	c.(541-546)CCTGGGfs	p.P181fs	MBD6_uc001sok.1_Frame_Shift_Ins_p.P48fs|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	181_182	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						TAGCAGGCCCTGGGGGGCTTTT	0.639												
HELB	92797	broad.mit.edu	37	12	66731962	66731962	+	RNA	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:66731962delA	uc010ssz.1	+	13		c.3448delA			HELB_uc009zqt.1_RNA			Q8NG08	HELB_HUMAN	Homo sapiens helicase B mRNA, complete cds.						DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GTACCAAGATAAAAAAAGTTT	0.294												
ZFC3H1	196441	broad.mit.edu	37	12	72038781	72038781	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:72038781delT	uc001swo.2	-	4	1514	c.1155delA	c.(1153-1155)AAAfs	p.K385fs		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	385	Potential.				RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						TTTGTTGCCATTTTTTACTGG	0.348												
BTBD11	121551	broad.mit.edu	37	12	107937778	107937778	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:107937778delC	uc001tmk.1	+	3	1873	c.1352delC	c.(1351-1353)ACCfs	p.T451fs	BTBD11_uc009zut.1_Frame_Shift_Del_p.T451fs|BTBD11_uc001tmj.2_Frame_Shift_Del_p.T451fs	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	451						integral to membrane	DNA binding			skin(2)|ovary(1)	3						GGCAATGGCACCCCCCTGCAC	0.582												
MED13L	23389	broad.mit.edu	37	12	116457653	116457653	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:116457653delT	uc001tvw.2	-	6	805	c.750delA	c.(748-750)AAAfs	p.K250fs		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	250					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCGATTCTTCTTTCTTTTTTA	0.418												
ARL6IP4	51329	broad.mit.edu	37	12	123467067	123467068	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:123467067_123467068delAC	uc001ued.2	+	5	1063_1064	c.1008_1009delAC	c.(1006-1011)CGACACfs	p.R336fs	ARL6IP4_uc001uec.2_Frame_Shift_Del_p.R328fs|ARL6IP4_uc001uee.2_Frame_Shift_Del_p.R317fs|ARL6IP4_uc001uef.2_Frame_Shift_Del_p.R317fs|ARL6IP4_uc001ueg.2_RNA|ARL6IP4_uc009zxt.2_Frame_Shift_Del_p.R202fs|ARL6IP4_uc001ueh.2_Frame_Shift_Del_p.R194fs|ARL6IP4_uc001uei.2_Frame_Shift_Del_p.R157fs	NM_018694	NP_061164	Q66PJ3	AR6P4_HUMAN	SRp25 nuclear protein isoform 1	336_337					RNA splicing	nucleus					0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)		ccaaagaaCGACACAGAGAGAT	0.361												
PDX1	3651	broad.mit.edu	37	13	28498713	28498713	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:28498713delC	uc001urt.2	+	2	835	c.727delC	c.(727-729)CCCfs	p.P243fs		NM_000209	NP_000200	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	243	Poly-Pro.		P -> PP (in MODY4).		detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity				0	all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		gccgccgccgccccccggAGG	0.692												
KL	9365	broad.mit.edu	37	13	33635594	33635594	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:33635594delA	uc001uus.2	+	4	2386	c.2378delA	c.(2377-2379)GAAfs	p.E793fs	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	793	Glycosyl hydrolase-1 2.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ACTGAAGATGAAAAAAAGCTA	0.393												
TBC1D4	9882	broad.mit.edu	37	13	75898394	75898394	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:75898394delG	uc001vjl.1	-	11	2524	c.2177delC	c.(2176-2178)CCAfs	p.P726fs	TBC1D4_uc010aer.2_Frame_Shift_Del_p.P726fs|TBC1D4_uc010aes.2_Intron	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	726	Ser-rich.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTCATACTGTGGGGACAGTCT	0.418												
BCL2L2	599	broad.mit.edu	37	14	23778156	23778157	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:23778156_23778157insT	uc001wjg.3	+	4	752_753	c.564_565insT	c.(562-567)GCCTTTfs	p.A188fs	PABPN1_uc001wjh.3_Intron|BCL2L2_uc001wji.3_Frame_Shift_Ins_p.A188fs	NM_004050	NP_004041	Q92843	B2CL2_HUMAN	BCL2-like 2 protein	188_189					anti-apoptosis|apoptosis|spermatogenesis	mitochondrial membrane	protein binding			central_nervous_system(1)	1	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		CTGTAGGGGCCTTTTTTGCTAG	0.634												
ARHGAP5	394	broad.mit.edu	37	14	32562545	32562545	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:32562545delT	uc001wrl.2	+	2	2909	c.2670delT	c.(2668-2670)GATfs	p.D890fs	ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.D890fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.D890fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	890					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GCCAAGCAGATTTTTTTGAAA	0.403												
SNX6	58533	broad.mit.edu	37	14	35074876	35074876	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:35074876delT	uc001wsf.1	-	5	362	c.354delA	c.(352-354)AAAfs	p.K118fs	SNX6_uc001wse.1_5'UTR|SNX6_uc010tpm.1_5'UTR|SNX6_uc010amm.1_5'UTR	NM_152233	NP_689419	Q9UNH7	SNX6_HUMAN	sorting nexin 6 isoform b	106	Phosphatidylinositol bisphosphate binding (By similarity).|PX.				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity				0	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		GCTTCTGTAGTTTTTCCCTTG	0.363												
CFL2	1073	broad.mit.edu	37	14	35182699	35182701	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:35182699_35182701delAGA	uc001wsg.3	-	2	211_213	c.70_72delTCT	c.(70-72)TCTdel	p.S24del	CFL2_uc010tpn.1_In_Frame_Del_p.S7del|CFL2_uc001wsh.3_In_Frame_Del_p.S24del|CFL2_uc001wsi.3_Intron|CFL2_uc001wsj.3_RNA	NM_021914	NP_068733	Q9Y281	COF2_HUMAN	cofilin 2	24	ADF-H.					cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(2)	2	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		CCTCTTGTGTAGAAGATTTCCTT	0.350												
CTAGE5	4253	broad.mit.edu	37	14	39819363	39819363	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:39819363delC	uc001wvg.3	+	24	2646	c.2310delC	c.(2308-2310)TTCfs	p.F770fs	CTAGE5_uc001wuz.3_Frame_Shift_Del_p.F758fs|CTAGE5_uc001wuy.3_Frame_Shift_Del_p.F690fs|CTAGE5_uc001wvb.3_Frame_Shift_Del_p.F698fs|CTAGE5_uc001wvc.3_Frame_Shift_Del_p.F672fs|CTAGE5_uc001wva.3_Frame_Shift_Del_p.F741fs|CTAGE5_uc001wvh.3_Frame_Shift_Del_p.F727fs|CTAGE5_uc001wvf.3_Frame_Shift_Del_p.F695fs|CTAGE5_uc001wvi.3_Frame_Shift_Del_p.F775fs|CTAGE5_uc010amz.2_Frame_Shift_Del_p.F386fs|CTAGE5_uc001wvj.3_Frame_Shift_Del_p.F741fs	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	770	Pro-rich.						enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CTGGATTTTTCCCCCCACCCC	0.448												
FERMT2	10979	broad.mit.edu	37	14	53360082	53360082	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:53360082delT	uc001xad.2	-	4	510	c.455delA	c.(454-456)AAGfs	p.K152fs	FERMT2_uc001xac.2_Frame_Shift_Del_p.K152fs|FERMT2_uc001xae.2_Frame_Shift_Del_p.K152fs|FERMT2_uc001xaf.2_Frame_Shift_Del_p.K152fs	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN	fermitin family homolog 2 isoform 1	152					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding				0	Breast(41;0.0342)					TAGCTTCTTCTTTTTTTTCTT	0.383												
DHRS7	51635	broad.mit.edu	37	14	60622738	60622739	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:60622738_60622739insT	uc001xes.2	-	2	449_450	c.265_266insA	c.(265-267)AGGfs	p.R89fs	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Frame_Shift_Ins_p.R39fs|DHRS7_uc001xeu.2_Frame_Shift_Ins_p.R89fs	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	89							binding|oxidoreductase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TCTTTTCACCCTTTCCAGCTCA	0.460												
VSX2	338917	broad.mit.edu	37	14	74726415	74726415	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:74726415delC	uc001xpq.2	+	4	780	c.690delC	c.(688-690)ATCfs	p.I230fs		NM_182894	NP_878314	P58304	VSX2_HUMAN	visual system homeobox 2	230	CVC.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GGCACTCCATCCCCCTGCCCG	0.642												
ANGEL1	23357	broad.mit.edu	37	14	77275933	77275933	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:77275933delG	uc001xsv.2	-	2	231	c.118delC	c.(118-120)CAGfs	p.Q40fs	ANGEL1_uc010tvf.1_Frame_Shift_Del_p.Q40fs	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	40										ovary(2)|central_nervous_system(1)|skin(1)	4			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCCTCTACCTGGGGGGATGAG	0.552												
HSP90AA1	3320	broad.mit.edu	37	14	102551249	102551250	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:102551249_102551250delTT	uc001yku.3	-	5	939_940	c.749_750delAA	c.(748-750)AAAfs	p.K250fs	HSP90AA1_uc001ykv.3_Frame_Shift_Del_p.K372fs|HSP90AA1_uc001ykw.1_Frame_Shift_Del_p.K71fs|HSP90AA1_uc001ykx.1_Frame_Shift_Del_p.K239fs	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	250					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	CTTCCGACtctttctcttcttt	0.188												
INF2	64423	broad.mit.edu	37	14	105174185	105174185	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:105174185delC	uc001ypb.2	+	8	1724	c.1581delC	c.(1579-1581)AGCfs	p.S527fs	INF2_uc010tyi.1_Frame_Shift_Del_p.S527fs|INF2_uc001ypc.2_Frame_Shift_Del_p.S527fs|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	527					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GCACCTGCAGCCCCCCCGTGG	0.562												
INF2	64423	broad.mit.edu	37	14	105174896	105174896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:105174896delC	uc001ypb.2	+	9	2002	c.1859delC	c.(1858-1860)GCCfs	p.A620fs	INF2_uc010tyi.1_Frame_Shift_Del_p.A620fs|INF2_uc001ypc.2_Frame_Shift_Del_p.A620fs|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	620	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		ACCATGGTGGCCCCCCGGGCC	0.701											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DISP2	85455	broad.mit.edu	37	15	40660921	40660921	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:40660921delT	uc001zlk.1	+	8	2697	c.2608delT	c.(2608-2610)TTTfs	p.F870fs		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	870					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GGCCCCCCAGTTTTTCCTGCA	0.667												
GANC	2595	broad.mit.edu	37	15	42600423	42600425	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:42600423_42600425delCTT	uc001zpi.2	+	8	943_945	c.629_631delCTT	c.(628-633)CCTTCT>CCT	p.S212del	GANC_uc001zph.2_In_Frame_Del_p.S212del|GANC_uc001zpj.1_5'UTR	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	212					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TCTACAGGCCCTTCTTCTATTGG	0.399												
PPIP5K1	9677	broad.mit.edu	37	15	43827486	43827486	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:43827486delC	uc001zrw.2	-	31	3871	c.3688delG	c.(3688-3690)GAGfs	p.E1230fs	PPIP5K1_uc001zrx.1_Frame_Shift_Del_p.E1203fs|PPIP5K1_uc001zru.2_Frame_Shift_Del_p.E1205fs|PPIP5K1_uc001zry.3_Frame_Shift_Del_p.E1205fs|PPIP5K1_uc001zrv.2_Intron	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	histidine acid phosphatase domain containing 2A	1230					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity				0						AGCTCTTGCTCCCCTTCTATG	0.557												
B2M	567	broad.mit.edu	37	15	45007833	45007834	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:45007833_45007834insA	uc001zuc.2	+	2	340_341	c.280_281insA	c.(280-282)GAAfs	p.E94fs	B2M_uc010uek.1_Frame_Shift_Ins_p.E94fs|B2M_uc010bdx.1_Intron	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	94	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		CACCCCCACTGAAAAAGATGAG	0.421												
USP8	9101	broad.mit.edu	37	15	50763891	50763892	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:50763891_50763892insG	uc001zym.3	+	9	1248_1249	c.748_749insG	c.(748-750)AGGfs	p.R250fs	USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.3_Frame_Shift_Ins_p.R250fs|USP8_uc001zyn.3_Frame_Shift_Ins_p.R250fs|USP8_uc010ufh.1_Frame_Shift_Ins_p.R173fs|USP8_uc010bev.1_Intron	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	250	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATGGAAGAAGAGGGGGAATGTG	0.406												
TRIP4	9325	broad.mit.edu	37	15	64686218	64686218	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:64686218delA	uc002anm.2	+	2	218	c.175delA	c.(175-177)AAAfs	p.K59fs		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	59					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3						AAATGAAGGCAAAAAAGGTCA	0.383												
SLC24A1	9187	broad.mit.edu	37	15	65917248	65917248	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:65917248delA	uc010ujf.1	+	2	1117	c.830delA	c.(829-831)GAAfs	p.E277fs	SLC24A1_uc010ujd.1_Frame_Shift_Del_p.E277fs|SLC24A1_uc010uje.1_Frame_Shift_Del_p.E277fs|SLC24A1_uc010ujg.1_Frame_Shift_Del_p.E277fs|SLC24A1_uc010ujh.1_Frame_Shift_Del_p.E277fs	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	277	Extracellular (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						AGCGTCATGGAAAAAAACAAC	0.507												
AKAP13	11214	broad.mit.edu	37	15	86122437	86122437	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:86122437delG	uc002blv.1	+	7	1308	c.1138delG	c.(1138-1140)GGGfs	p.G380fs	AKAP13_uc002blt.1_Frame_Shift_Del_p.G380fs|AKAP13_uc002blu.1_Frame_Shift_Del_p.G380fs	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	380					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						GGAAAGAAAAGGGGAAGAGGT	0.478												
AKAP13	11214	broad.mit.edu	37	15	86287017	86287017	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:86287017delA	uc002blv.1	+	36	8523	c.8353delA	c.(8353-8355)AAAfs	p.K2785fs	AKAP13_uc002blu.1_Frame_Shift_Del_p.K2789fs|AKAP13_uc002blw.1_Frame_Shift_Del_p.K1250fs|AKAP13_uc002blx.1_Frame_Shift_Del_p.K1030fs	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2785	Interaction with ESR1.|Poly-Lys.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						AAAGAAGGAGAAAAAAAAGAA	0.542												
C15orf42	90381	broad.mit.edu	37	15	90146028	90146028	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:90146028delA	uc002boe.2	+	13	2569	c.2569delA	c.(2569-2571)AAAfs	p.K857fs		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	857					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TTTTAAAAGGAAAAATGCATT	0.264												
LINS1	55180	broad.mit.edu	37	15	101114004	101114004	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:101114004delT	uc002bwe.2	-	6	1365	c.1074delA	c.(1072-1074)AAAfs	p.K358fs	LINS1_uc002bwd.2_5'Flank|LINS1_uc002bwf.2_Frame_Shift_Del_p.K358fs|LINS1_uc002bwg.2_Frame_Shift_Del_p.K358fs|LINS1_uc002bwh.2_Frame_Shift_Del_p.K358fs|LINS1_uc010usa.1_Frame_Shift_Del_p.K239fs|LINS1_uc002bwi.2_Frame_Shift_Del_p.K358fs	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	lines homolog 1	358											0	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			AAAAGGAATGTTTTTCATAAA	0.413												
ITFG3	83986	broad.mit.edu	37	16	304591	304591	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:304591delT	uc002cgf.2	+	3	374	c.179delT	c.(178-180)CTTfs	p.L60fs	ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Frame_Shift_Del_p.L60fs|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Frame_Shift_Del_p.L60fs	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	60	Helical; Signal-anchor for type II membrane protein; (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TTTCTCTGCCTTTTTGTGGTG	0.557												
CACNA1H	8912	broad.mit.edu	37	16	1270496	1270496	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:1270496delC	uc002cks.2	+	35	6812	c.6564delC	c.(6562-6564)AGCfs	p.S2188fs	CACNA1H_uc002ckt.2_Frame_Shift_Del_p.S2182fs|CACNA1H_uc002cku.2_Frame_Shift_Del_p.S883fs|CACNA1H_uc010brj.2_Frame_Shift_Del_p.S899fs|CACNA1H_uc002ckv.2_Frame_Shift_Del_p.S877fs	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2188	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGAAGATGAGCCCCCCCTGCA	0.741												
CASKIN1	57524	broad.mit.edu	37	16	2229782	2229782	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:2229782delG	uc010bsg.1	-	18	3619	c.3587delC	c.(3586-3588)CCGfs	p.P1196fs		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1196	Pro-rich.				signal transduction	cytoplasm				skin(2)	2						TTCGGCAGGCGGGGGCGGTGG	0.741												
CLDN9	9080	broad.mit.edu	37	16	3063895	3063895	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3063895delG	uc010uwo.1	+	1	1439	c.532delG	c.(532-534)GGGfs	p.G178fs		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	178	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						TATGCTGGGCGGGGGGCTCCT	0.721												
C16orf90	646174	broad.mit.edu	37	16	3543946	3543946	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3543946delG	uc002cvi.2	-	3	442	c.442delC	c.(442-444)CAGfs	p.Q148fs		NM_001080524	NP_001073993	A8MZG2	CP090_HUMAN	hypothetical protein LOC646174	138											0						GGACTAGGCTGGGGGAGGGCA	0.627												
VASN	114990	broad.mit.edu	37	16	4432529	4432529	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:4432529delG	uc002cwj.1	+	2	1806	c.1651delG	c.(1651-1653)GGGfs	p.G551fs	CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	slit-like 2 precursor	551	Fibronectin type-III.|Extracellular (Potential).					extracellular region|integral to membrane					0						GGAGGCCTGCGGGGAGGCCCA	0.721												
ANKS3	124401	broad.mit.edu	37	16	4747357	4747358	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:4747357_4747358insG	uc002cxj.1	-	16	2165_2166	c.1870_1871insC	c.(1870-1872)CTGfs	p.L624fs	ANKS3_uc010uxr.1_Frame_Shift_Ins_p.L147fs|ANKS3_uc002cxh.1_RNA|ANKS3_uc002cxi.1_Frame_Shift_Ins_p.L551fs|ANKS3_uc002cxk.2_Frame_Shift_Ins_p.L495fs|ANKS3_uc002cxl.2_Frame_Shift_Ins_p.L451fs|ANKS3_uc010uxs.1_Frame_Shift_Ins_p.L551fs	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain	624											0						ACGGTCCTCCAGGGCTCCCGAG	0.644												
TOX3	27324	broad.mit.edu	37	16	52478236	52478236	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:52478236delT	uc002egw.2	-	6	1110	c.939delA	c.(937-939)AAAfs	p.K313fs	TOX3_uc010vgt.1_Frame_Shift_Del_p.K308fs|TOX3_uc010vgu.1_Frame_Shift_Del_p.K313fs	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	313	HMG box.				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity				0						TCAGGTATTCTTTTTTGGCAG	0.463												
RPGRIP1L	23322	broad.mit.edu	37	16	53691536	53691536	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:53691536delT	uc002ehp.2	-	13	1474	c.1410delA	c.(1408-1410)AAAfs	p.K470fs	RPGRIP1L_uc002eho.3_Frame_Shift_Del_p.K470fs|RPGRIP1L_uc010vgy.1_Frame_Shift_Del_p.K470fs|RPGRIP1L_uc010cbx.2_Frame_Shift_Del_p.K470fs|RPGRIP1L_uc010vgz.1_Frame_Shift_Del_p.K470fs	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	470	Potential.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				TTTTTTGTTCTTTTTGAGCCT	0.279												
SLC38A7	55238	broad.mit.edu	37	16	58705111	58705111	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:58705111delC	uc002eod.1	-	10	1462	c.1069delG	c.(1069-1071)GTGfs	p.V357fs	SLC38A7_uc002eob.1_RNA|SLC38A7_uc002eoc.1_Intron|SLC38A7_uc010vil.1_Frame_Shift_Del_p.V268fs	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	357					amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1						TCCACTGGCACCCCCTGGTAG	0.677												
CTCF	10664	broad.mit.edu	37	16	67645339	67645339	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:67645339delA	uc002etl.2	+	3	894	c.604delA	c.(604-606)AAAfs	p.K202fs	CTCF_uc010cek.2_Intron	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	202					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCCACCAGCCAAAAAAACAAA	0.478												
ZFHX3	463	broad.mit.edu	37	16	72821960	72821960	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:72821960delG	uc002fck.2	-	10	10888	c.10215delC	c.(10213-10215)CCCfs	p.P3405fs	ZFHX3_uc002fcl.2_Frame_Shift_Del_p.P2491fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3405					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				AAGGAGCCCCGGGGGGGACTG	0.413												
SLC16A11	162515	broad.mit.edu	37	17	6945482	6945482	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:6945482delC	uc002gei.1	-	3	1357	c.1019delG	c.(1018-1020)GGTfs	p.G340fs		NM_153357	NP_699188	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	340	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)	1						CAGCAGGGGACCCCCCCAGCT	0.731												
DNAH2	146754	broad.mit.edu	37	17	7640418	7640418	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7640418delT	uc002giu.1	+	7	1026	c.1012delT	c.(1012-1014)TTTfs	p.F338fs	DNAH2_uc002git.2_Frame_Shift_Del_p.F338fs|DNAH2_uc010vuk.1_Frame_Shift_Del_p.F338fs	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	338	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAACCTGACCTTTTTGTCAAT	0.448												
RANGRF	29098	broad.mit.edu	37	17	8192722	8192722	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:8192722delA	uc002gkv.2	+	3	459	c.341delA	c.(340-342)GAAfs	p.E114fs	SLC25A35_uc002gku.1_3'UTR|SLC25A35_uc002gkt.2_Intron|RANGRF_uc002gkw.2_Frame_Shift_Del_p.E114fs|RANGRF_uc002gky.2_Frame_Shift_Del_p.E114fs|RANGRF_uc002gkx.2_Frame_Shift_Del_p.E114fs|SLC25A35_uc002gkz.1_Intron	NM_016492	NP_057576	Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor	114					protein transport	cytoplasm|nucleus	guanyl-nucleotide exchange factor activity				0						ATAGCTAAGGAAAACCAGCAG	0.577												
CCDC42	146849	broad.mit.edu	37	17	8633476	8633476	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:8633476delT	uc002gln.2	-	7	1150	c.923delA	c.(922-924)AAGfs	p.K308fs	CCDC42_uc002glo.2_Frame_Shift_Del_p.K234fs	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42 isoform 1	308										ovary(1)	1						TTGTTCCTTCTTTTTCACCTC	0.542												
TNFRSF13B	23495	broad.mit.edu	37	17	16843700	16843700	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:16843700delC	uc002gqs.1	-	4	584	c.571delG	c.(571-573)GATfs	p.D191fs	TNFRSF13B_uc010vwt.1_RNA|TNFRSF13B_uc002gqt.1_Frame_Shift_Del_p.D145fs	NM_012452	NP_036584	O14836	TR13B_HUMAN	tumor necrosis factor receptor 13B	191	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			kidney(2)	2						GAGCAGGGATCCCCCCTCTTC	0.647									IgA_Deficiency_Selective			
CPD	1362	broad.mit.edu	37	17	28772928	28772930	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:28772928_28772930delCTC	uc002hfb.1	+	12	2778_2780	c.2763_2765delCTC	c.(2761-2766)CGCTCC>CGC	p.S924del	CPD_uc010wbo.1_In_Frame_Del_p.S677del|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	924	Extracellular (Potential).|Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						TCATGTTACGCTCCTCCTCAAAT	0.404												
SRCIN1	80725	broad.mit.edu	37	17	36707421	36707421	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:36707421delG	uc002hqd.2	-	15	3157	c.2932delC	c.(2932-2934)CGAfs	p.R978fs	SRCIN1_uc002hqf.1_Frame_Shift_Del_p.R850fs|SRCIN1_uc002hqe.2_Frame_Shift_Del_p.R832fs	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	850	Pro-rich.			R -> K (in Ref. 6; AA sequence).	exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						GGCTCCGTTCGGGGGGCTGCC	0.687												
MED24	9862	broad.mit.edu	37	17	38182445	38182446	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:38182445_38182446delAG	uc002htt.2	-	19	2261_2262	c.1948_1949delCT	c.(1948-1950)CTGfs	p.L650fs	MED24_uc010wer.1_5'Flank|MED24_uc010wes.1_Frame_Shift_Del_p.L510fs|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Frame_Shift_Del_p.L675fs|MED24_uc002htu.2_Frame_Shift_Del_p.L637fs|MED24_uc010cwn.2_Frame_Shift_Del_p.L637fs|MED24_uc010weu.1_Frame_Shift_Del_p.L560fs|MED24_uc010wev.1_Frame_Shift_Del_p.L600fs|MED24_uc010wew.1_Frame_Shift_Del_p.L591fs|SNORD124_uc010wey.1_5'Flank	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	650					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					CTCACTAAACAGTGGCCCTGCC	0.569												
KRT23	25984	broad.mit.edu	37	17	39092691	39092692	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:39092691_39092692insG	uc002hvm.1	-	2	753_754	c.164_165insC	c.(163-165)CCTfs	p.P55fs	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Frame_Shift_Ins_p.P55fs|KRT23_uc002hvn.1_Frame_Shift_Ins_p.P55fs	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	55	Head.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				AAGACCCTCCAGGGGGTGGGCA	0.673												
KCNH4	23415	broad.mit.edu	37	17	40312113	40312113	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:40312113delG	uc002hzb.2	-	16	3332	c.2999delC	c.(2998-3000)CCAfs	p.P1000fs		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	1000	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTTGGGGTTGGGGGTGAGGC	0.652												
PLEKHH3	79990	broad.mit.edu	37	17	40825491	40825491	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:40825491delC	uc002iau.2	-	5	1041	c.574delG	c.(574-576)GTGfs	p.V192fs	PLEKHH3_uc010cyl.1_5'Flank|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Frame_Shift_Del_p.V192fs	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	192	PH.				signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CGCAATGCCACCCCCCAGCGC	0.632												
C17orf57	124989	broad.mit.edu	37	17	45471395	45471395	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:45471395delA	uc002iln.2	+	16	2142	c.1731delA	c.(1729-1731)ACAfs	p.T577fs	C17orf57_uc002ilm.2_Frame_Shift_Del_p.T481fs	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	577							calcium ion binding			breast(1)|central_nervous_system(1)|skin(1)	3						CTGTAGAAACAAAAAAAGTGA	0.214												
NFE2L1	4779	broad.mit.edu	37	17	46128959	46128959	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:46128959delC	uc002imz.3	+	2	1130	c.479delC	c.(478-480)GCCfs	p.A160fs	NFE2L1_uc002ina.3_Frame_Shift_Del_p.A160fs|NFE2L1_uc002inb.3_Frame_Shift_Del_p.A160fs|NFE2L1_uc002inc.1_Frame_Shift_Del_p.A160fs	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	160	Asp/Glu-rich (acidic).				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1						GGGGCTGTAGCCCCCCCAGTC	0.592												
PPM1D	8493	broad.mit.edu	37	17	58740439	58740439	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:58740439delT	uc002iyt.1	+	6	1566	c.1344delT	c.(1342-1344)AATfs	p.N448fs	PPM1D_uc010ddm.1_RNA	NM_003620	NP_003611	O15297	PPM1D_HUMAN	protein phosphatase 1D	448					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TCTCAGAGAATTTTTTAGAGG	0.448											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)
METTL2A	339175	broad.mit.edu	37	17	60522297	60522298	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:60522297_60522298insA	uc002izv.2	+	7	927_928	c.909_910insA	c.(907-912)TTTAAAfs	p.F303fs	METTL2A_uc002izw.2_Frame_Shift_Ins_p.F167fs	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	303_304							methyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			AGCTTCGGTTTAAAAAAGGTAT	0.332												
ACE	1636	broad.mit.edu	37	17	61571754	61571754	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:61571754delC	uc002jau.1	+	22	3325	c.3303delC	c.(3301-3303)TGCfs	p.C1101fs	ACE_uc002jav.1_Frame_Shift_Del_p.C527fs|ACE_uc010ddv.1_Frame_Shift_Del_p.C328fs|ACE_uc010wpj.1_Frame_Shift_Del_p.C527fs|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Frame_Shift_Del_p.C347fs	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	1101	Extracellular (Potential).|Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AGGGCCTCTGCCCCCCAGTGC	0.562												
DDX42	11325	broad.mit.edu	37	17	61886281	61886281	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:61886281delG	uc002jbu.2	+	11	1382	c.1125delG	c.(1123-1125)GAGfs	p.E375fs	DDX42_uc002jbv.2_Frame_Shift_Del_p.E375fs|DDX42_uc002jbw.1_Frame_Shift_Del_p.E111fs|DDX42_uc002jbx.2_Frame_Shift_Del_p.E111fs|DDX42_uc002jby.2_5'Flank	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	375	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5						CCCTTCAGGAGGGGGCAGAGA	0.478												
AXIN2	8313	broad.mit.edu	37	17	63533939	63533940	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:63533939_63533940delCT	uc002jfi.2	-	6	1503_1504	c.1214_1215delAG	c.(1213-1215)GAGfs	p.E405fs	AXIN2_uc002jfh.2_Frame_Shift_Del_p.E405fs	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	405	Interaction with GSK3B (By similarity).				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						GCTCGGAGCCCTCTCTCTCTTC	0.624									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome			
ABCA10	10349	broad.mit.edu	37	17	67190626	67190626	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:67190626delA	uc010dfa.1	-	13	2124	c.1245delT	c.(1243-1245)TTTfs	p.F415fs	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Frame_Shift_Del_p.F16fs	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	415	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					CATATATGTCAAAAAATATGC	0.328												
SOX9	6662	broad.mit.edu	37	17	70117712	70117714	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:70117712_70117714delGAA	uc002jiw.2	+	1	552_554	c.180_182delGAA	c.(178-183)CTGAAG>CTG	p.K62del	uc002jiv.2_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	transcription factor SOX9	62					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription				0		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			AGCCCGATCTGAAGAAGGAGAGC	0.690												
FOXJ1	2302	broad.mit.edu	37	17	74133832	74133833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:74133832_74133833insG	uc002jqw.2	-	2	957_958	c.867_868insC	c.(865-870)CCCAGCfs	p.P289fs	FOXJ1_uc002jqx.2_Frame_Shift_Ins_p.P289fs|uc002jqy.1_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	forkhead box J1	289_290					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			pancreas(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			AGCAGGGTGCTGGGGGGCCGCG	0.713												
CCDC137	339230	broad.mit.edu	37	17	79639138	79639138	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:79639138delC	uc002kbc.3	+	5	649	c.613delC	c.(613-615)CCCfs	p.P205fs	CCDC137_uc002kbd.2_RNA	NM_199287	NP_954981	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	205										central_nervous_system(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGTCCTGCAGCCCCCAGAGCT	0.612												
LRRC45	201255	broad.mit.edu	37	17	79985564	79985564	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:79985564delG	uc002kde.2	+	8	1088	c.848delG	c.(847-849)CGTfs	p.R283fs		NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	283	Potential.					centrosome				pancreas(1)	1	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TCGGCAGCCCGTGTAGGGCAG	0.607												
KLHL14	57565	broad.mit.edu	37	18	30349862	30349862	+	Frame_Shift_Del	DEL	G	G	-	rs147661052		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:30349862delG	uc002kxm.1	-	2	1081	c.693delC	c.(691-693)CCCfs	p.P231fs		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	231	BACK.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						CCGACTCCACGGGGGGCGGCA	0.642												
FHOD3	80206	broad.mit.edu	37	18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:34205516delC	uc002kzt.1	+	10	1097	c.1000delC	c.(1000-1002)CCCfs	p.P334fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P159fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P87fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	334	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACGGAGCCACCCCCCAGTGG	0.677												
MIDN	90007	broad.mit.edu	37	19	1254338	1254338	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:1254338delC	uc002lrp.2	+	5	1072	c.557delC	c.(556-558)TCCfs	p.S186fs		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	186						nucleolus					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCATAGCCTCCCCCGTGTCC	0.761												
APC2	10297	broad.mit.edu	37	19	1468912	1468912	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:1468912delC	uc002lsr.1	+	15	5820	c.5612delC	c.(5611-5613)ACCfs	p.T1871fs	APC2_uc002lss.1_Frame_Shift_Del_p.T1453fs|APC2_uc002lst.1_Frame_Shift_Del_p.T1871fs|APC2_uc002lsu.1_Frame_Shift_Del_p.T1870fs|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1871	Pro-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGCCAAGACCCCCTCCTCC	0.761												
SLC39A3	29985	broad.mit.edu	37	19	2737117	2737118	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:2737117_2737118delAG	uc002lwg.2	-	2	392_393	c.138_139delCT	c.(136-141)CTCTGCfs	p.L46fs	SLC39A3_uc010xgy.1_Frame_Shift_Del_p.L46fs|SLC39A3_uc002lwh.2_Frame_Shift_Del_p.L46fs	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	46_47	Helical; (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGTGTTGCAGAGAGAGAGGA	0.569												
PTPRS	5802	broad.mit.edu	37	19	5244243	5244243	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:5244243delG	uc002mbv.2	-	11	1473	c.1239delC	c.(1237-1239)CCCfs	p.P413fs	PTPRS_uc002mbu.1_Frame_Shift_Del_p.P400fs|PTPRS_uc010xin.1_Frame_Shift_Del_p.P400fs|PTPRS_uc002mbw.2_Frame_Shift_Del_p.P400fs|PTPRS_uc002mbx.2_Frame_Shift_Del_p.P404fs|PTPRS_uc002mby.2_Frame_Shift_Del_p.P400fs	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	413	Fibronectin type-III 1.|Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CGGACTCGCTGGGGGGCCCCT	0.677												
FBN3	84467	broad.mit.edu	37	19	8196625	8196625	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:8196625delC	uc002mjf.2	-	14	1824	c.1803delG	c.(1801-1803)GGGfs	p.G601fs		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	601	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CTACCGCCAGCCCCCCCAGGC	0.677												
RAVER1	125950	broad.mit.edu	37	19	10433397	10433397	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:10433397delG	uc002moa.2	-	6	1228	c.1148delC	c.(1147-1149)CCAfs	p.P383fs		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	366	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CGGCATGGCTGGGGGGGCACC	0.662												
TYK2	7297	broad.mit.edu	37	19	10476274	10476274	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:10476274delC	uc002moc.3	-	7	1308	c.930delG	c.(928-930)GGGfs	p.G310fs	TYK2_uc010dxe.2_Frame_Shift_Del_p.G125fs|TYK2_uc002mod.2_Frame_Shift_Del_p.G310fs	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	310	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GGGTTGGGGGCCCAGCAGCAG	0.672												
MRI1	84245	broad.mit.edu	37	19	13882968	13882968	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:13882968delC	uc002mxe.2	+	6	1049	c.983delC	c.(982-984)ACCfs	p.T328fs	MRI1_uc002mxf.2_Frame_Shift_Del_p.T281fs|C19orf53_uc002mxg.2_5'Flank	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	translation initiation factor eIF-2B subunit	328					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			ovary(1)	1						TTCGATGTCACCCCCCACGAC	0.557												
OR10H4	126541	broad.mit.edu	37	19	16059877	16059877	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:16059877delC	uc010xov.1	+	1	60	c.60delC	c.(58-60)TTCfs	p.F20fs		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						TCTCAGCCTTCCCCCAGCACC	0.458												
ARHGAP33	115703	broad.mit.edu	37	19	36268609	36268610	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36268609_36268610insG	uc002obr.1	+	2	154_155	c.69_70insG	c.(67-72)GCTGGGfs	p.A23fs	ARHGAP33_uc002obs.1_Frame_Shift_Ins_p.A23fs|ARHGAP33_uc002obt.1_Intron|ARHGAP33_uc010eek.1_Frame_Shift_Ins_p.A41fs	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	23_24					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						TACCCACTGCTGGGGGGCCCAG	0.639												
KIRREL2	84063	broad.mit.edu	37	19	36352086	36352087	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36352086_36352087delTG	uc002ocb.3	+	9	1331_1332	c.1119_1120delTG	c.(1117-1122)TATGTGfs	p.Y373fs	KIRREL2_uc002obz.3_Frame_Shift_Del_p.Y373fs|KIRREL2_uc002oca.3_Frame_Shift_Del_p.Y323fs|KIRREL2_uc002occ.3_Frame_Shift_Del_p.Y320fs|KIRREL2_uc002ocd.3_Frame_Shift_Del_p.Y370fs	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	373_374	Extracellular (Potential).|Ig-like C2-type 4.				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGGCGACTATGTGTGCAGAGC	0.678												
ZNF345	25850	broad.mit.edu	37	19	37368503	37368504	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:37368503_37368504delAT	uc002oex.2	+	3	1149_1150	c.771_772delAT	c.(769-774)CCATATfs	p.P257fs	ZNF345_uc002oey.3_Frame_Shift_Del_p.P257fs|ZNF345_uc002oez.2_Intron	NM_003419	NP_003410	Q14585	ZN345_HUMAN	zinc finger protein 345	257_258	C2H2-type 8.				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGAGAAACCATATATATGTAA	0.406												
TTC9B	148014	broad.mit.edu	37	19	40723198	40723198	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:40723198delC	uc002onc.2	-	2	524	c.506delG	c.(505-507)GGCfs	p.G169fs		NM_152479	NP_689692	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	169							binding				0						CTTGAAGTTGCCCTGCTGCTT	0.672												
ZNF234	10780	broad.mit.edu	37	19	44654608	44654608	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44654608delA	uc002oym.2	+	5	492	c.185delA	c.(184-186)GAAfs	p.E62fs	ZNF234_uc002oyl.3_Frame_Shift_Del_p.E62fs	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				TTAGAAAAGGAAAAAAAGCTT	0.368												
ZNF180	7733	broad.mit.edu	37	19	44982338	44982338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:44982338delT	uc002ozf.3	-	5	642	c.360delA	c.(358-360)AAAfs	p.K120fs	ZNF180_uc002ozh.3_5'UTR|ZNF180_uc002ozi.3_Frame_Shift_Del_p.K93fs|ZNF180_uc002ozg.3_Frame_Shift_Del_p.K119fs|ZNF180_uc010ejm.2_Frame_Shift_Del_p.K95fs	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	120	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				AAGTTGAATCTTTTTTTCCAA	0.338												
ERCC2	2068	broad.mit.edu	37	19	45855886	45855886	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45855886delC	uc002pbj.2	-	21	1971	c.1924delG	c.(1924-1926)GACfs	p.D642fs	ERCC2_uc002pbh.2_Frame_Shift_Del_p.D205fs|ERCC2_uc002pbi.2_Frame_Shift_Del_p.D335fs|ERCC2_uc010ejz.2_Frame_Shift_Del_p.D564fs|ERCC2_uc002pbk.2_Frame_Shift_Del_p.D618fs	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	642					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGGAACTGGTCCCGCAGGTAT	0.612			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
PPP1R13L	10848	broad.mit.edu	37	19	45899436	45899436	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:45899436delC	uc002pbn.2	-	6	970	c.893delG	c.(892-894)GGCfs	p.G298fs	PPP1R13L_uc002pbo.2_Frame_Shift_Del_p.G298fs|PPP1R13L_uc002pbp.2_Frame_Shift_Del_p.G298fs	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	298	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTTGCCGGTGCCCCCCAGTCC	0.701												
SHANK1	50944	broad.mit.edu	37	19	51220109	51220109	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:51220109delC	uc002psx.1	-	1	87	c.68delG	c.(67-69)GGCfs	p.G23fs		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	23					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGACTCTGAGCCCCCCTCGGG	0.726												
SIGLEC9	27180	broad.mit.edu	37	19	51633196	51633196	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:51633196delC	uc002pvu.2	+	7	1319	c.1252delC	c.(1252-1254)CCCfs	p.P418fs	SIGLEC9_uc010yct.1_Intron	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9 precursor	418	Cytoplasmic (Potential).				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGACCAGCCTCCCCCAGCTTC	0.597												
KIDINS220	57498	broad.mit.edu	37	2	8919228	8919228	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:8919228delA	uc002qzc.2	-	19	2594	c.2412delT	c.(2410-2412)TTTfs	p.F804fs	KIDINS220_uc010yiv.1_Frame_Shift_Del_p.F570fs|KIDINS220_uc002qzd.2_Frame_Shift_Del_p.F762fs|KIDINS220_uc010yiw.1_Frame_Shift_Del_p.F805fs	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	804	KAP NTPase.|Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GATCACTTGCAAAAATGGCAA	0.383												
ITSN2	50618	broad.mit.edu	37	2	24494710	24494710	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:24494710delT	uc002rfe.2	-	19	2440	c.2182delA	c.(2182-2184)ATTfs	p.I728fs	ITSN2_uc002rff.2_Frame_Shift_Del_p.I701fs|ITSN2_uc002rfg.2_Frame_Shift_Del_p.I728fs	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	728	Potential.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					tcttcttgaattttttcttgt	0.030												
CCDC88A	55704	broad.mit.edu	37	2	55561621	55561622	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:55561621_55561622insT	uc002ryv.2	-	15	3177_3178	c.2335_2336insA	c.(2335-2337)ATCfs	p.I779fs	CCDC88A_uc010yoz.1_Frame_Shift_Ins_p.I779fs|CCDC88A_uc010ypa.1_Frame_Shift_Ins_p.I779fs|CCDC88A_uc010ypb.1_Frame_Shift_Ins_p.I681fs|CCDC88A_uc002ryu.2_Frame_Shift_Ins_p.I62fs|CCDC88A_uc002ryw.2_Frame_Shift_Ins_p.I62fs	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	779	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						TAATTGCTGGATTTTTTTATTG	0.327												
GGCX	2677	broad.mit.edu	37	2	85786171	85786172	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:85786171_85786172insG	uc002sps.2	-	3	347_348	c.241_242insC	c.(241-243)CAGfs	p.Q81fs	GGCX_uc010yss.1_5'Flank|GGCX_uc010yst.1_Frame_Shift_Ins_p.Q24fs	NM_000821	NP_000812	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase isoform 1	81	Helical; (Potential).				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			ovary(1)	1					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	CCCCCGCTCCTGGGGAATGTCT	0.485												
SEMA4C	54910	broad.mit.edu	37	2	97529759	97529759	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:97529759delG	uc002sxh.3	-	11	1394	c.1234delC	c.(1234-1236)CTGfs	p.L412fs	SEMA4C_uc002sxf.3_5'Flank|SEMA4C_uc002sxe.2_5'Flank|SEMA4C_uc002sxg.3_Frame_Shift_Del_p.L465fs	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C precursor	412	Extracellular (Potential).|Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			skin(2)	2						TTCACGAGCAGGGGGCGGCTC	0.612												
IL1R2	7850	broad.mit.edu	37	2	102644749	102644749	+	Frame_Shift_Del	DEL	G	G	-	rs145225100		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:102644749delG	uc002tbm.2	+	9	1321	c.1092delG	c.(1090-1092)TTGfs	p.L364fs	IL1R2_uc002tbn.2_Frame_Shift_Del_p.L364fs	NM_004633	NP_004624	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II precursor	364	Helical; (Potential).				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			ovary(1)|breast(1)	2					Anakinra(DB00026)	TCTTGGTTTTGGGGGGAATAT	0.517												
PAX8	7849	broad.mit.edu	37	2	113993122	113993122	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:113993122delG	uc010yxt.1	-	9	1102	c.936delC	c.(934-936)CCCfs	p.P312fs	PAX8_uc010yxu.1_Intron|PAX8_uc010yxv.1_Intron|PAX8_uc002tjm.2_Intron|PAX8_uc002tjn.2_Intron|uc002tjp.2_RNA|LOC654433_uc002tjq.3_RNA|LOC654433_uc010fks.2_RNA|LOC654433_uc010fkt.2_RNA|LOC654433_uc002tjr.3_5'Flank	NM_003466	NP_003457	Q06710	PAX8_HUMAN	paired box 8 isoform PAX8A	312					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity			ovary(1)|lung(1)	2						TGGACACCTCGGGGGTTTCCT	0.592			T	PPARG	follicular thyroid		Thyroid dysgenesis 					
CYP27C1	339761	broad.mit.edu	37	2	127944879	127944880	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:127944879_127944880insC	uc002tod.2	-	8	1217_1218	c.1086_1087insG	c.(1084-1089)GGGCCCfs	p.G362fs		NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C,	362_363						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		ACGTGGATGGGCCCCCCTGGCG	0.475												
ERCC3	2071	broad.mit.edu	37	2	128030506	128030506	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:128030506delC	uc002toh.1	-	11	1857	c.1762delG	c.(1762-1764)GAAfs	p.E588fs	ERCC3_uc002toe.1_Frame_Shift_Del_p.E343fs|ERCC3_uc002tof.1_Frame_Shift_Del_p.E524fs|ERCC3_uc002tog.1_Frame_Shift_Del_p.E524fs	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	588	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGCATCCTTTCCCCCTGAGAC	0.453			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
IWS1	55677	broad.mit.edu	37	2	128238676	128238676	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:128238676delT	uc002ton.2	-	14	2707	c.2404delA	c.(2404-2406)AGCfs	p.S802fs		NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	802					transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GCAGATCTGCTTTTTTTCCTT	0.423												
NXPH2	11249	broad.mit.edu	37	2	139428706	139428707	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:139428706_139428707insT	uc002tvi.2	-	2	580_581	c.580_581insA	c.(580-582)ACAfs	p.T194fs		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	194	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)		CGCCCGATCTGTTTTTTCATAC	0.500												
KCNJ3	3760	broad.mit.edu	37	2	155711558	155711559	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:155711558_155711559insA	uc002tyv.1	+	3	1434_1435	c.1239_1240insA	c.(1237-1242)CCCAAAfs	p.P413fs	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	413_414	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	AAGACTTTCCCAAAAAACTCTT	0.391												
SCN3A	6328	broad.mit.edu	37	2	165984441	165984441	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:165984441delA	uc002ucx.2	-	18	3585	c.3093delT	c.(3091-3093)TTTfs	p.F1031fs	SCN3A_uc002ucy.2_Frame_Shift_Del_p.F982fs|SCN3A_uc002ucz.2_Frame_Shift_Del_p.F982fs|SCN3A_uc002uda.1_Frame_Shift_Del_p.F851fs|SCN3A_uc002udb.1_Frame_Shift_Del_p.F851fs	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1031						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TTGGCTTTCTAAAAAAGGCTT	0.328												
SCN9A	6335	broad.mit.edu	37	2	167168247	167168247	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:167168247delG	uc010fpl.2	-	2	361	c.20delC	c.(19-21)CCAfs	p.P7fs		NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	7						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTGAGGTCCTGGGGGAGGCAA	0.403												
HNRNPA3	220988	broad.mit.edu	37	2	178077589	178077589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:178077589delG	uc002ulb.1	+	1	168	c.62delG	c.(61-63)CGGfs	p.R21fs	HNRNPA3_uc002ulc.1_Frame_Shift_Del_p.R21fs|HNRNPA3_uc002uld.2_Intron	NM_194247	NP_919223	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	21						catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(2)	2						CGTCGCCGCCGGGGGGAGGAG	0.701												
TTN	7273	broad.mit.edu	37	2	179398170	179398170	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:179398170delG	uc010zfg.1	-	307	95692	c.95468delC	c.(95467-95469)CCAfs	p.P31823fs	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.P25518fs|TTN_uc010zfi.1_Frame_Shift_Del_p.P25451fs|TTN_uc010zfj.1_Frame_Shift_Del_p.P25326fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32750							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAATGTTGGTGGGGGGATGCC	0.458												
ZSWIM2	151112	broad.mit.edu	37	2	187693167	187693167	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:187693167delT	uc002upu.1	-	9	1486	c.1446delA	c.(1444-1446)AAAfs	p.K482fs		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	482					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CATAGGTTAATTTTTTTGAAT	0.313												
MARS2	92935	broad.mit.edu	37	2	198570830	198570830	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:198570830delC	uc002uuq.2	+	1	744	c.701delC	c.(700-702)ACCfs	p.T234fs	uc002uup.2_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	methionine-tRNA synthetase 2 precursor	234					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3					L-Methionine(DB00134)	CAGGCGATCACCCCCGAACCA	0.582												
BZW1	9689	broad.mit.edu	37	2	201685969	201685970	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:201685969_201685970delAG	uc010zhg.1	+	11	1317_1318	c.1265_1266delAG	c.(1264-1266)AAGfs	p.K422fs	BZW1_uc002uwc.2_Frame_Shift_Del_p.K324fs	NM_014670	NP_055485	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	390	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding				0						GCAAAGGGGAAGAGTGTTTTCC	0.381												
ZDBF2	57683	broad.mit.edu	37	2	207172565	207172565	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:207172565delA	uc002vbp.2	+	5	3563	c.3313delA	c.(3313-3315)AAAfs	p.K1105fs		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1105	Potential.						nucleic acid binding|zinc ion binding			ovary(3)	3						TATTGGCCTGAAAAATAAGAT	0.328												
XRCC5	7520	broad.mit.edu	37	2	216992351	216992351	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:216992351delA	uc002vfy.2	+	8	1031	c.891delA	c.(889-891)TTAfs	p.L297fs	XRCC5_uc002vfz.2_Frame_Shift_Del_p.L183fs	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	297	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			lung(1)|kidney(1)	2		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TTTATTGCTTAAATGATGATG	0.303								Direct_reversal_of_damage|NHEJ				
IGFBP2	3485	broad.mit.edu	37	2	217525351	217525351	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:217525351delG	uc010zjt.1	+	4	643	c.493delG	c.(493-495)GGGfs	p.G165fs	IGFBP2_uc010zju.1_Frame_Shift_Del_p.G100fs	NM_000597	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2,	172					positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding				0		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CATGTTGGGCGGGGGAGGCAG	0.607												
SPEG	10290	broad.mit.edu	37	2	220349122	220349122	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:220349122delC	uc010fwg.2	+	30	6937	c.6937delC	c.(6937-6939)CCCfs	p.P2313fs		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2313	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCCACGGTGCCCCCCAGGCC	0.692												
IRS1	3667	broad.mit.edu	37	2	227662195	227662195	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:227662195delG	uc002voh.3	-	1	1312	c.1260delC	c.(1258-1260)CCCfs	p.P420fs		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	420	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGCCATCGCTGGGGGAACCAG	0.612											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HDAC4	9759	broad.mit.edu	37	2	240002823	240002823	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:240002823delG	uc002vyk.3	-	22	3495	c.2703delC	c.(2701-2703)CCCfs	p.P901fs	HDAC4_uc010fyy.2_Frame_Shift_Del_p.P858fs	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	901	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CGTCTCCCATGGGGGGGTCCA	0.602												
KIAA1755	85449	broad.mit.edu	37	20	36841830	36841830	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:36841830delC	uc002xhy.1	-	14	3489	c.3217delG	c.(3217-3219)GTGfs	p.V1073fs	KIAA1755_uc002xhv.1_Frame_Shift_Del_p.V137fs|KIAA1755_uc002xhw.1_Frame_Shift_Del_p.V128fs|KIAA1755_uc002xhx.1_Frame_Shift_Del_p.V351fs	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	1073										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				TTGGCTGCCACCCCTCTTCGT	0.607												
FAM83D	81610	broad.mit.edu	37	20	37580943	37580943	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:37580943delC	uc002xjg.2	+	4	1669	c.1628delC	c.(1627-1629)ACCfs	p.T543fs		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	513					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)				TACCTGGGCACCCCCCACCTG	0.537												
SALL4	57167	broad.mit.edu	37	20	50400983	50400983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:50400983delC	uc002xwh.3	-	4	3084	c.2983delG	c.(2983-2985)GTTfs	p.V995fs	SALL4_uc010gii.2_Frame_Shift_Del_p.V558fs|SALL4_uc002xwi.3_Frame_Shift_Del_p.V218fs	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	995					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AGGGTAGGAACCCCCCCACTC	0.562												
COL20A1	57642	broad.mit.edu	37	20	61943276	61943277	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:61943276_61943277insC	uc011aau.1	+	14	1772_1773	c.1672_1673insC	c.(1672-1674)GCCfs	p.A558fs	COL20A1_uc011aav.1_Frame_Shift_Ins_p.A379fs	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	558	Fibronectin type-III 4.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					AGCCACCCTGGCCCCCCCGAGA	0.693												
BTG3	10950	broad.mit.edu	37	21	18981391	18981391	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:18981391delT	uc002ykk.2	-	2	332	c.72delA	c.(70-72)AAAfs	p.K24fs	BTG3_uc002ykl.2_Frame_Shift_Del_p.K24fs	NM_006806	NP_006797	Q14201	BTG3_HUMAN	B-cell translocation gene 3 isoform b	24					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm					0				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		CAACTGCCTCTTTTTTCAACT	0.353												
DOPEY2	9980	broad.mit.edu	37	21	37586451	37586452	+	Frame_Shift_Ins	INS	-	-	T	rs147590869	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:37586451_37586452insT	uc002yvg.2	+	8	1056_1057	c.977_978insT	c.(976-978)TATfs	p.Y326fs	DOPEY2_uc011aeb.1_Frame_Shift_Ins_p.Y326fs	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	326					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CAGTCGTCTTATTTTTTTGAAA	0.396												
PFKL	5211	broad.mit.edu	37	21	45744439	45744439	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:45744439delG	uc002zel.2	+	17	1775	c.1716delG	c.(1714-1716)ATGfs	p.M572fs	PFKL_uc002zek.2_Frame_Shift_Del_p.M619fs|PFKL_uc002zem.2_Frame_Shift_Del_p.M159fs|PFKL_uc002zen.2_Frame_Shift_Del_p.M159fs	NM_002626	NP_002617	P17858	K6PL_HUMAN	liver phosphofructokinase	572					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding				0				Colorectal(79;0.0811)		TGGAGACCATGGGGGGTTACT	0.627												
CECR2	27443	broad.mit.edu	37	22	18028863	18028863	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:18028863delT	uc010gqw.1	+	16	3946	c.3820delT	c.(3820-3822)TTTfs	p.F1274fs	CECR2_uc010gqv.1_Frame_Shift_Del_p.F1132fs|CECR2_uc002zml.2_Frame_Shift_Del_p.F1133fs|CECR2_uc002zmo.2_RNA	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1316					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		TCCCAAAGAATTTTTAGACCT	0.517												
SMTN	6525	broad.mit.edu	37	22	31486953	31486953	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:31486953delC	uc003ajl.1	+	10	1162	c.944delC	c.(943-945)ACCfs	p.T315fs	SMTN_uc003ajk.1_Frame_Shift_Del_p.T315fs|SMTN_uc003ajm.1_Frame_Shift_Del_p.T315fs|SMTN_uc011ale.1_Frame_Shift_Del_p.T369fs|SMTN_uc011alf.1_Frame_Shift_Del_p.T371fs|SMTN_uc003ajn.1_Frame_Shift_Del_p.T307fs|SMTN_uc011alg.1_5'UTR|SMTN_uc003ajo.1_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	315					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						CTAGAGTCCACCCCCCTTGCC	0.587												
ACO2	50	broad.mit.edu	37	22	41920925	41920927	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:41920925_41920927delAAG	uc003bac.2	+	13	1580_1582	c.1558_1560delAAG	c.(1558-1560)AAGdel	p.K521del	ACO2_uc003bad.2_In_Frame_Del_p.K546del	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	521					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						CACGGATGGCAAGAAGTTCAGGC	0.591												
STT3B	201595	broad.mit.edu	37	3	31574592	31574593	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:31574592_31574593insG	uc011axe.1	+	1	102_103	c.102_103insG	c.(100-105)CACGGGfs	p.H34fs	STT3B_uc010hft.1_Frame_Shift_Ins_p.H34fs|STT3B_uc003cer.1_Frame_Shift_Ins_p.H34fs	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	source of immunodominant MHC-associated	34_35					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0						ACGGCCACCACGGGCCCGGGGC	0.569												
MYD88	4615	broad.mit.edu	37	3	38180225	38180226	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:38180225_38180226insC	uc003chx.2	+	1	257_258	c.73_74insC	c.(73-75)GCCfs	p.A25fs	ACAA1_uc003cht.2_5'Flank|ACAA1_uc003chu.2_5'Flank|ACAA1_uc010hgy.2_5'Flank|ACAA1_uc010hgz.2_5'Flank|ACAA1_uc003chv.2_5'Flank|MYD88_uc011ayh.1_Frame_Shift_Ins_p.A25fs|MYD88_uc011ayi.1_Frame_Shift_Ins_p.A25fs|MYD88_uc011ayj.1_Frame_Shift_Ins_p.A25fs|MYD88_uc011ayk.1_Frame_Shift_Ins_p.A25fs|MYD88_uc011ayl.1_Frame_Shift_Ins_p.A25fs	NM_002468	NP_002459	Q99836	MYD88_HUMAN	myeloid differentiation primary response gene	12					3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(93)|breast(1)	94				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGGGTCTGCGGCCCCGGTCTCC	0.688			Mis 		ABC-DLBCL							
CCR5	1234	broad.mit.edu	37	3	46414455	46414455	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:46414455delA	uc003cpo.3	+	3	184	c.62delA	c.(61-63)CAAfs	p.Q21fs	CCR5_uc010hjd.2_Frame_Shift_Del_p.Q21fs	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5	21	Extracellular (Potential).				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GAGCCCTGCCAAAAAATCAAT	0.433												
CELSR3	1951	broad.mit.edu	37	3	48666129	48666129	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:48666129delC	uc003cuf.1	-	51	11833	c.11833delG	c.(11833-11835)GTGfs	p.V3945fs	SLC26A6_uc003cug.2_Frame_Shift_Del_p.V519fs|SLC26A6_uc003cuh.2_Frame_Shift_Del_p.V540fs|SLC26A6_uc010hke.2_Frame_Shift_Del_p.V391fs|SLC26A6_uc003cuk.2_Frame_Shift_Del_p.V433fs|SLC26A6_uc003cui.2_Frame_Shift_Del_p.V540fs|SLC26A6_uc003cuj.2_Frame_Shift_Del_p.V540fs|SLC26A6_uc011bbp.1_Frame_Shift_Del_p.V504fs	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AAGACCTTCACCCCCCGGACT	0.592												
NEK4	6787	broad.mit.edu	37	3	52794938	52794938	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:52794938delT	uc003dfq.3	-	6	1025	c.836delA	c.(835-837)AATfs	p.N279fs	NEK4_uc011bej.1_Frame_Shift_Del_p.N190fs|NEK4_uc003dfr.2_Frame_Shift_Del_p.N279fs	NM_003157	NP_003148	P51957	NEK4_HUMAN	NIMA-related kinase 4	279					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TTTAATGTTATTTTTGGAGGT	0.348												
APPL1	26060	broad.mit.edu	37	3	57271572	57271572	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:57271572delA	uc003dio.2	+	3	353	c.206delA	c.(205-207)GAAfs	p.E69fs	APPL1_uc010hnb.2_Frame_Shift_Del_p.E69fs|APPL1_uc011bey.1_Frame_Shift_Del_p.E52fs	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	69	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		AAAGAATATGAAAAACAGGTA	0.264												
KBTBD8	84541	broad.mit.edu	37	3	67054660	67054663	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:67054660_67054663delTGTT	uc003dmy.2	+	3	1322_1325	c.1269_1272delTGTT	c.(1267-1272)ACTGTTfs	p.T423fs	KBTBD8_uc011bfv.1_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	423_424	Kelch 2.									ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GTTGGACGACTGTTTGCGCGATGC	0.407												
HTR1F	3355	broad.mit.edu	37	3	88040889	88040889	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:88040889delT	uc003dqr.2	+	2	1148	c.990delT	c.(988-990)AATfs	p.N330fs		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	330	Helical; Name=7; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AAATGTCCAATTTTTTGGCAT	0.323												
KIAA2018	205717	broad.mit.edu	37	3	113376978	113376979	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:113376978_113376979delCT	uc003eam.2	-	7	3961_3962	c.3550_3551delAG	c.(3550-3552)AGTfs	p.S1184fs	KIAA2018_uc003eal.2_Frame_Shift_Del_p.S1128fs	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1184					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						TCCTGTGCCACTCTCTTTAGGT	0.450												
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:114058003delG	uc003ebi.2	-	5	2255	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632												
EIF2A	83939	broad.mit.edu	37	3	150289746	150289746	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:150289746delA	uc003eya.2	+	10	829	c.813delA	c.(811-813)CCAfs	p.P271fs	SERP1_uc003exz.2_Intron|EIF2A_uc003eyb.2_Frame_Shift_Del_p.P144fs|EIF2A_uc003eyc.2_Frame_Shift_Del_p.P144fs|EIF2A_uc011bnv.1_Frame_Shift_Del_p.P246fs|EIF2A_uc011bnw.1_Frame_Shift_Del_p.P210fs|EIF2A_uc003eyd.2_Frame_Shift_Del_p.P46fs|uc003eye.1_Intron	NM_032025	NP_114414	Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A	271					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding				0		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTTTTCTAGCAAAAAATGGCC	0.313												
SCHIP1	29970	broad.mit.edu	37	3	159482699	159482699	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:159482699delC	uc003fcs.1	+	2	597	c.531delC	c.(529-531)GGCfs	p.G177fs	SCHIP1_uc003fcq.1_Frame_Shift_Del_p.G253fs|SCHIP1_uc003fcr.1_Frame_Shift_Del_p.G166fs|SCHIP1_uc003fct.1_Frame_Shift_Del_p.G177fs|SCHIP1_uc010hvz.1_Frame_Shift_Del_p.G150fs	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1	177						cytoplasm	identical protein binding|protein binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			GTTCCCGGGGCCCCCGCCGGG	0.766												
DGKG	1608	broad.mit.edu	37	3	185975717	185975717	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:185975717delA	uc003fqa.2	-	17	1973	c.1436delT	c.(1435-1437)TTCfs	p.F479fs	DGKG_uc003fqb.2_Frame_Shift_Del_p.F440fs|DGKG_uc003fqc.2_Frame_Shift_Del_p.F454fs|DGKG_uc011brx.1_Frame_Shift_Del_p.F420fs	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	479	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGTATCACGGAAAAAGTTCAA	0.493												
LSG1	55341	broad.mit.edu	37	3	194362829	194362829	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:194362829delT	uc003fui.2	-	14	2260	c.1945delA	c.(1945-1947)AGTfs	p.S649fs		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	649					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		AGTCTACGACTTTTTTCTTTT	0.498												
C3orf21	152002	broad.mit.edu	37	3	194790780	194790780	+	Frame_Shift_Del	DEL	G	G	-	rs116550317	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:194790780delG	uc003fum.3	-	4	954	c.846delC	c.(844-846)CCCfs	p.P282fs	C3orf21_uc003ful.2_Frame_Shift_Del_p.P79fs|C3orf21_uc003fuk.2_Frame_Shift_Del_p.P76fs	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	hypothetical protein LOC152002	282						integral to membrane	transferase activity, transferring glycosyl groups				0	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)		GCAGCCCCTCGGGGGGCGGGC	0.682												
RBPJ	3516	broad.mit.edu	37	4	26321499	26321499	+	Translation_Start_Site	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:26321499delG	uc003grx.1	+	1	168	c.-68delG	c.(-70--66)ATGGG>ATGG		RBPJ_uc003gry.1_Frame_Shift_Del_p.M1fs|RBPJ_uc003grz.1_5'Flank|RBPJ_uc011bxt.1_5'Flank|RBPJ_uc003gsa.1_5'Flank|RBPJ_uc003gsb.1_5'Flank	NM_005349	NP_005340	Q06330	SUH_HUMAN	recombining binding protein suppressor of						DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)	3		Breast(46;0.0503)				GGGGAAAGATGGGGGGCTGCA	0.647												
AASDH	132949	broad.mit.edu	37	4	57244505	57244505	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:57244505delT	uc003hbn.2	-	4	630	c.477delA	c.(475-477)AAAfs	p.K159fs	AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Frame_Shift_Del_p.K6fs|AASDH_uc003hbo.2_Frame_Shift_Del_p.K59fs|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Frame_Shift_Del_p.K159fs|AASDH_uc003hbp.2_Frame_Shift_Del_p.K159fs	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	159					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CATATTTCTCTTTTCCATCAT	0.338												
SEC31A	22872	broad.mit.edu	37	4	83763593	83763594	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:83763593_83763594insC	uc003hnf.2	-	22	2831_2832	c.2667_2668insG	c.(2665-2670)GGGTCAfs	p.G889fs	SEC31A_uc003hnd.2_Frame_Shift_Ins_p.G45fs|SEC31A_uc003hne.2_Frame_Shift_Ins_p.G653fs|SEC31A_uc011ccl.1_Frame_Shift_Ins_p.G850fs|SEC31A_uc003hnl.2_Intron|SEC31A_uc003hng.2_Frame_Shift_Ins_p.G889fs|SEC31A_uc003hnh.2_Frame_Shift_Ins_p.G889fs|SEC31A_uc003hni.2_Intron|SEC31A_uc003hnj.2_Frame_Shift_Ins_p.G850fs|SEC31A_uc011ccm.1_Frame_Shift_Ins_p.G884fs|SEC31A_uc011ccn.1_Frame_Shift_Ins_p.G889fs|SEC31A_uc003hnk.2_Frame_Shift_Ins_p.G850fs|SEC31A_uc003hnm.2_Frame_Shift_Ins_p.G889fs	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	889_890	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				TACATTGCTGACCCCCCTGTTC	0.460												
CDS1	1040	broad.mit.edu	37	4	85525494	85525495	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:85525494_85525495insA	uc011ccv.1	+	2	714_715	c.216_217insA	c.(214-219)CTCAAAfs	p.L72fs		NM_001263	NP_001254	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase 1	72_73					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			large_intestine(2)|ovary(1)|breast(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CTGAGATTCTCAAAAAAGCTCT	0.376												
UNC5C	8633	broad.mit.edu	37	4	96140294	96140294	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:96140294delG	uc003htp.1	-	9	1625	c.1471delC	c.(1471-1473)CAAfs	p.Q491fs	UNC5C_uc010ilc.1_Frame_Shift_Del_p.Q510fs|UNC5C_uc003htq.2_Frame_Shift_Del_p.Q510fs	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	491	Cytoplasmic (Potential).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGGTCATCTTGGGGGGTGACA	0.502												
CFI	3426	broad.mit.edu	37	4	110682806	110682807	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:110682806_110682807delAG	uc003hzr.3	-	4	732_733	c.524_525delCT	c.(523-525)TCTfs	p.S175fs	CFI_uc003hzq.2_5'UTR|CFI_uc011cft.1_Frame_Shift_Del_p.S175fs|CFI_uc003hzs.3_Frame_Shift_Del_p.S175fs	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	175	SRCR.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TGGAATTTATAGAGAGATCAGA	0.356												
SORBS2	8470	broad.mit.edu	37	4	186510856	186510856	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:186510856delT	uc003iyl.2	-	20	4076	c.3218delA	c.(3217-3219)AAGfs	p.K1073fs	SORBS2_uc003iyh.2_Frame_Shift_Del_p.K797fs|SORBS2_uc011ckw.1_Frame_Shift_Del_p.K634fs|SORBS2_uc003iyi.2_Frame_Shift_Del_p.K704fs|SORBS2_uc011ckx.1_Frame_Shift_Del_p.K639fs|SORBS2_uc003iyk.2_Frame_Shift_Del_p.K617fs|SORBS2_uc003iym.2_Frame_Shift_Del_p.K1173fs|SORBS2_uc003iyn.1_Frame_Shift_Del_p.K664fs|SORBS2_uc011cku.1_Frame_Shift_Del_p.K465fs|SORBS2_uc011ckv.1_Frame_Shift_Del_p.K977fs|SORBS2_uc003iyd.2_Frame_Shift_Del_p.K772fs|SORBS2_uc003iye.2_Frame_Shift_Del_p.K646fs|SORBS2_uc003iya.2_Frame_Shift_Del_p.K593fs|SORBS2_uc003iyb.2_Frame_Shift_Del_p.K546fs|SORBS2_uc003iyc.2_Frame_Shift_Del_p.K526fs|SORBS2_uc003iyg.2_Frame_Shift_Del_p.K1187fs|SORBS2_uc003iyf.2_Frame_Shift_Del_p.K609fs	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	1073	SH3 3.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTCATCACACTTTTCCATGAC	0.463												
NSUN2	54888	broad.mit.edu	37	5	6620235	6620236	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:6620235_6620236delAT	uc003jdu.2	-	7	863_864	c.798_799delAT	c.(796-801)TTATGTfs	p.L266fs	NSUN2_uc003jdt.2_Frame_Shift_Del_p.L30fs|NSUN2_uc011cmk.1_Frame_Shift_Del_p.L231fs|NSUN2_uc003jdv.2_Frame_Shift_Del_p.L30fs	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	266_267						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						GGGACATCACATAAAATTCGAT	0.426												
CDH18	1016	broad.mit.edu	37	5	19473809	19473809	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:19473809delA	uc003jgc.2	-	12	2276	c.1899delT	c.(1897-1899)TTTfs	p.F633fs	CDH18_uc003jgd.2_Frame_Shift_Del_p.F633fs|CDH18_uc011cnm.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	633	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCAGGGTGATAAAAAGTACCA	0.413												
SLC38A9	153129	broad.mit.edu	37	5	54941671	54941671	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:54941671delA	uc003jqf.2	-	12	1314	c.1113delT	c.(1111-1113)TTTfs	p.F371fs	SLC38A9_uc003jqd.2_Frame_Shift_Del_p.F308fs|SLC38A9_uc010ivx.2_Frame_Shift_Del_p.F308fs|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Frame_Shift_Del_p.F242fs	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	371	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane					0		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AATTATGAATAAAAAAAGCAA	0.313												
PPWD1	23398	broad.mit.edu	37	5	64865507	64865508	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:64865507_64865508insA	uc003jtv.3	+	3	355_356	c.348_349insA	c.(346-351)TGGAAAfs	p.W116fs	PPWD1_uc011cqv.1_Frame_Shift_Ins_p.W86fs|PPWD1_uc011cqw.1_5'UTR	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat	116_117	WD 1.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TCAAGTTCTGGAAAAAAATAGA	0.317												
BDP1	55814	broad.mit.edu	37	5	70837318	70837319	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:70837318_70837319insA	uc003kbp.1	+	29	6323_6324	c.6060_6061insA	c.(6058-6063)GATAAAfs	p.D2020fs	BDP1_uc003kbo.2_Frame_Shift_Ins_p.D2020fs|BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	2020_2021					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATTCAAAGGATAAAAGCCATAT	0.297												
POLK	51426	broad.mit.edu	37	5	74893608	74893609	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:74893608_74893609insA	uc003kdw.2	+	14	2618_2619	c.2522_2523insA	c.(2521-2523)ACAfs	p.T841fs	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Frame_Shift_Ins_p.T643fs|POLK_uc003kec.2_Frame_Shift_Ins_p.T751fs|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_3'UTR|POLK_uc003kee.2_3'UTR|POLK_uc003kef.2_Frame_Shift_Ins_p.T751fs	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	841					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTAACAAGAACAAAAAGGTATG	0.233								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
LYSMD3	116068	broad.mit.edu	37	5	89815219	89815219	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:89815219delT	uc003kjr.2	-	3	486	c.338delA	c.(337-339)AAGfs	p.K113fs	LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_Frame_Shift_Del_p.K93fs	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain	113	Extracellular (Potential).				cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		GGAACTGAACTTTTTTACTGG	0.393												
ADAMTS19	171019	broad.mit.edu	37	5	129030453	129030454	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:129030453_129030454insA	uc003kvb.1	+	19	2841_2842	c.2841_2842insA	c.(2839-2844)AGCAAAfs	p.S947fs	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	947_948	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAATCATGAGCAAAAATATCAG	0.351												
MATR3	9782	broad.mit.edu	37	5	138643543	138643545	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:138643543_138643545delAGG	uc003ldu.2	+	5	866_868	c.439_441delAGG	c.(439-441)AGGdel	p.R149del	MATR3_uc003lds.2_In_Frame_Del_p.R149del|MATR3_uc010jfb.2_In_Frame_Del_p.R149del|MATR3_uc003ldt.2_Intron|MATR3_uc003ldw.2_In_Frame_Del_p.R149del|MATR3_uc003ldx.2_In_Frame_Del_p.R149del|MATR3_uc010jfc.2_In_Frame_Del_p.R149del|MATR3_uc003ldy.2_Intron|MATR3_uc011czb.1_Intron|MATR3_uc003ldz.2_In_Frame_Del_p.R149del|MATR3_uc003lea.2_In_Frame_Del_p.R149del	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	149						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACAGCTTAAAAGGAGGAGAACTG	0.463												
TMEM173	340061	broad.mit.edu	37	5	138857068	138857068	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:138857068delG	uc003lep.2	-	7	1043	c.792delC	c.(790-792)CCCfs	p.P264fs		NM_198282	NP_938023	Q86WV6	TM173_HUMAN	transmembrane protein 173	264	Cytoplasmic (Potential).				activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			upper_aerodigestive_tract(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGTCTGCAAGGGGGTGGCGT	0.572												
PCDHGB1	56104	broad.mit.edu	37	5	140730922	140730922	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:140730922delA	uc003ljo.1	+	1	1095	c.1095delA	c.(1093-1095)ATAfs	p.I365fs	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Frame_Shift_Del_p.I365fs	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	365	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGCCCTCATAAAAGTGCGAG	0.418												
LARP1	23367	broad.mit.edu	37	5	154135745	154135745	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:154135745delC	uc003lvp.2	+	1	857	c.428delC	c.(427-429)TCCfs	p.S143fs	LARP1_uc003lvo.2_Intron|LARP1_uc010jie.1_5'Flank	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	143							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACGGACAGTCCCCCCCAGGT	0.642												
ODZ2	57451	broad.mit.edu	37	5	167553862	167553862	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:167553862delC	uc010jjd.2	+	12	2313	c.2313delC	c.(2311-2313)CACfs	p.H771fs	ODZ2_uc003lzr.3_Frame_Shift_Del_p.H539fs|ODZ2_uc003lzt.3_Frame_Shift_Del_p.H135fs|ODZ2_uc010jje.2_Frame_Shift_Del_p.H42fs|uc003lzs.1_Intron	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GCGTGTGCCACCCCCGCTGCA	0.612												
FOXI1	2299	broad.mit.edu	37	5	169533034	169533034	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:169533034delC	uc003mai.3	+	1	118	c.73delC	c.(73-75)CCCfs	p.P25fs	FOXI1_uc003maj.3_Frame_Shift_Del_p.P25fs	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	25	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGCCAGGAGCCCCCCGAGAT	0.697									Pendred_syndrome			
SH3PXD2B	285590	broad.mit.edu	37	5	171766334	171766334	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:171766334delT	uc003mbr.2	-	13	1946	c.1775delA	c.(1774-1776)AATfs	p.N592fs		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	592					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCCCATGTCATTTTTCAGCTG	0.557												
FAM193B	54540	broad.mit.edu	37	5	176951522	176951522	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:176951522delG	uc003mhs.3	-	8	3450	c.1861delC	c.(1861-1863)CGGfs	p.R621fs	FAM193B_uc003mhr.2_Frame_Shift_Del_p.R158fs|FAM193B_uc003mht.2_Frame_Shift_Del_p.R280fs|FAM193B_uc003mhu.2_Frame_Shift_Del_p.R333fs|FAM193B_uc003mhv.2_Frame_Shift_Del_p.R280fs|FAM193B_uc003mhw.2_RNA	NM_019057	NP_061930	E9PET5	E9PET5_HUMAN	hypothetical protein LOC54540	654											0						GCTGGGGGCCGGGGGGCTGGG	0.662												
HNRNPH1	3187	broad.mit.edu	37	5	179044644	179044644	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:179044644delA	uc003mkf.3	-	9	1034	c.928delT	c.(928-930)TCAfs	p.S310fs	HNRNPH1_uc011dgn.1_Frame_Shift_Del_p.S40fs|HNRNPH1_uc003mkg.3_Frame_Shift_Del_p.S218fs|HNRNPH1_uc003mke.3_Frame_Shift_Del_p.S310fs|HNRNPH1_uc003mkh.3_Frame_Shift_Del_p.S310fs	NM_005520	NP_005511	P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1	310	RRM 3.|2 X 16 AA Gly-rich approximate repeats.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding				0						TTGAGCGGTGAAAAAAACTAC	0.383												
TRIM7	81786	broad.mit.edu	37	5	180630563	180630565	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:180630563_180630565delCTT	uc003mmz.1	-	2	665_667	c.598_600delAAG	c.(598-600)AAGdel	p.K200del	TRIM7_uc003mmv.1_5'Flank|TRIM7_uc003mmw.1_5'UTR|TRIM7_uc003mmx.1_5'UTR|TRIM7_uc003mmy.1_5'UTR|TRIM7_uc003mna.2_In_Frame_Del_p.K200del	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	200	Potential.					cytoplasm|nucleus	zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CCTTGCTCTCCTTCTTTTCCGTG	0.571												
BTN2A2	10385	broad.mit.edu	37	6	26390383	26390383	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:26390383delA	uc003nhq.2	+	5	961	c.875delA	c.(874-876)GAAfs	p.E292fs	BTN2A2_uc011dkf.1_Frame_Shift_Del_p.E176fs|BTN2A2_uc011dkg.1_Frame_Shift_Del_p.E198fs|BTN2A2_uc003nhr.2_Frame_Shift_Del_p.E176fs|BTN2A2_uc011dkh.1_Frame_Shift_Del_p.E82fs|BTN2A2_uc003nhs.2_Frame_Shift_Del_p.E292fs|BTN2A2_uc003nht.2_Frame_Shift_Del_p.E292fs|BTN2A2_uc011dki.1_Frame_Shift_Del_p.E41fs	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	292	Potential.|Cytoplasmic (Potential).				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						CTTCAAAGGGAAAAAAAGATT	0.398												
MAS1L	116511	broad.mit.edu	37	6	29455056	29455056	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:29455056delT	uc011dlq.1	-	1	624	c.624delA	c.(622-624)AAAfs	p.K208fs		NM_052967	NP_443199	P35410	MAS1L_HUMAN	MAS1 oncogene-like	208	Extracellular (Potential).					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			ovary(7)|lung(2)	9						GGAAAAGTGATTTTACTATGT	0.433												
MDC1	9656	broad.mit.edu	37	6	30681463	30681463	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:30681463delT	uc003nrg.3	-	4	989	c.549delA	c.(547-549)AAAfs	p.K183fs	MDC1_uc003nrf.3_5'Flank|MDC1_uc011dmp.1_Frame_Shift_Del_p.K55fs|MDC1_uc003nrh.1_Frame_Shift_Del_p.K55fs|MDC1_uc003nri.2_Frame_Shift_Del_p.K183fs	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	183	Interaction with the MRN complex.|Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TGGTCCTTGATTTTTTTACCA	0.438								Other_conserved_DNA_damage_response_genes				
TNXB	7148	broad.mit.edu	37	6	32057080	32057080	+	Frame_Shift_Del	DEL	G	G	-	rs3134959		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:32057080delG	uc003nzl.2	-	5	2637	c.2435delC	c.(2434-2436)CCTfs	p.P812fs		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	764					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CTCCTGTCCAGGGGCCAGTCC	0.642												
COL11A2	1302	broad.mit.edu	37	6	33152075	33152075	+	Frame_Shift_Del	DEL	G	G	-	rs147527758		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:33152075delG	uc003ocx.1	-	8	1194	c.966delC	c.(964-966)CCCfs	p.P322fs	COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	322	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						TGTCGGCTGTGGGGGGGACCT	0.607												
VPS52	6293	broad.mit.edu	37	6	33219710	33219711	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:33219710_33219711insC	uc003odm.1	-	18	2042_2043	c.1832_1833insG	c.(1831-1833)GGTfs	p.G611fs	VPS52_uc003odn.1_Frame_Shift_Ins_p.G422fs	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	611					protein transport	endosome membrane|Golgi apparatus				ovary(4)|skin(1)	5						ATGCCACTAAACCCCCAAAAGG	0.485												
TAPBP	6892	broad.mit.edu	37	6	33272175	33272175	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:33272175delG	uc003odx.1	-	5	1280	c.1109delC	c.(1108-1110)CCAfs	p.P370fs	TAPBP_uc010jus.1_Frame_Shift_Del_p.P388fs|TAPBP_uc003ody.2_3'UTR|TAPBP_uc003odz.2_Frame_Shift_Del_p.P370fs|TAPBP_uc010jut.1_Frame_Shift_Del_p.P283fs|TAPBP_uc011drc.1_Frame_Shift_Del_p.P370fs	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	370	Ig-like C1-type.|Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			ovary(1)	1						AGTGGTGACTGGGGGCGGCTG	0.677												
TBC1D22B	55633	broad.mit.edu	37	6	37250063	37250063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:37250063delC	uc003onn.2	+	4	670	c.524delC	c.(523-525)GCCfs	p.A175fs	TBC1D22B_uc010jwt.2_RNA	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	175						intracellular	Rab GTPase activator activity				0			OV - Ovarian serous cystadenocarcinoma(102;0.241)			GCTTCTGGGGCCCCCCCAATG	0.572												
CDC5L	988	broad.mit.edu	37	6	44371563	44371563	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:44371563delA	uc003oxl.2	+	6	816	c.557delA	c.(556-558)CAAfs	p.Q186fs		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	186	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCTGCCCTCCAAAAAAGAAGA	0.353												
BEND6	221336	broad.mit.edu	37	6	56846680	56846681	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:56846680_56846681delAG	uc010kab.2	+	2	658_659	c.72_73delAG	c.(70-75)ACAGAGfs	p.T24fs	BEND6_uc003pdg.2_RNA	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	24_25											0						GGAAAAGAACAGAGACAATGGA	0.342												
COL12A1	1303	broad.mit.edu	37	6	75851781	75851781	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:75851781delC	uc003phs.2	-	27	5090	c.4924delG	c.(4924-4926)GAGfs	p.E1642fs	COL12A1_uc003pht.2_Frame_Shift_Del_p.E478fs	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1642	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GGAGGAGACTCCCCCTCGTCA	0.478												
ZNF292	23036	broad.mit.edu	37	6	87970961	87970961	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:87970961delT	uc003plm.3	+	8	7655	c.7614delT	c.(7612-7614)AATfs	p.N2538fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGGAAAAAAATGTCTCACAAA	0.348												
ANKRD6	22881	broad.mit.edu	37	6	90340549	90340549	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:90340549delT	uc003pni.3	+	16	2351	c.2010delT	c.(2008-2010)TATfs	p.Y670fs	ANKRD6_uc003pne.3_Frame_Shift_Del_p.Y665fs|ANKRD6_uc003pnf.3_Frame_Shift_Del_p.Y635fs|ANKRD6_uc011dzy.1_Frame_Shift_Del_p.Y670fs|ANKRD6_uc010kcd.2_Frame_Shift_Del_p.Y606fs|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_Frame_Shift_Del_p.Y266fs|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_Frame_Shift_Del_p.Y266fs	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	670							protein binding			ovary(2)|pancreas(1)	3		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TTACCCAGTATTTTTTTGAGG	0.537												
CASP8AP2	9994	broad.mit.edu	37	6	90578753	90578754	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:90578753_90578754insA	uc003pnr.2	+	8	5940_5941	c.5744_5745insA	c.(5743-5745)GCAfs	p.A1915fs	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Frame_Shift_Ins_p.A1915fs|CASP8AP2_uc011dzz.1_Frame_Shift_Ins_p.A1915fs	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1915	NCOA2-binding.				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGTCTTTCTGCAAAAAATGTTA	0.386												
BEND3	57673	broad.mit.edu	37	6	107391602	107391602	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:107391602delC	uc003prs.2	-	5	1443	c.793delG	c.(793-795)GACfs	p.D265fs		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	265	BEN 1.									ovary(3)	3						CAGGCCAGGTCCCCCCCTGAC	0.652												
REV3L	5980	broad.mit.edu	37	6	111688632	111688632	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:111688632delG	uc003puy.3	-	14	6682	c.6359delC	c.(6358-6360)CCTfs	p.P2120fs	REV3L_uc003pux.3_Frame_Shift_Del_p.P2042fs|REV3L_uc003puz.3_Frame_Shift_Del_p.P2042fs|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2120					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGGAGAATCAGGGGAGCTATA	0.443								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
SASH1	23328	broad.mit.edu	37	6	148865778	148865778	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:148865778delC	uc003qme.1	+	18	3647	c.3172delC	c.(3172-3174)CCCfs	p.P1058fs	SASH1_uc011eeb.1_Frame_Shift_Del_p.P819fs|SASH1_uc003qmf.1_Frame_Shift_Del_p.P468fs	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1058	Pro-rich.						protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CACAAGGCCGCCCCCCTGGCT	0.697												
SYNE1	23345	broad.mit.edu	37	6	152762390	152762391	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:152762390_152762391insT	uc010kiw.2	-	32	4625_4626	c.4023_4024insA	c.(4021-4026)AAATGGfs	p.K1341fs	SYNE1_uc003qot.3_Frame_Shift_Ins_p.K1348fs|SYNE1_uc003qou.3_Frame_Shift_Ins_p.K1341fs|SYNE1_uc010kjb.1_Frame_Shift_Ins_p.K1324fs|SYNE1_uc003qow.2_Frame_Shift_Ins_p.K636fs|SYNE1_uc003qox.1_Frame_Shift_Ins_p.K857fs	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1341_1342	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATCGCTCCCATTTTCTTAATG	0.317										HNSCC(10;0.0054)		
THBS2	7058	broad.mit.edu	37	6	169648522	169648523	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:169648522_169648523delCT	uc003qwt.2	-	4	846_847	c.598_599delAG	c.(598-600)AGTfs	p.S200fs		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	200	TSP N-terminal.|Heparin-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCTGAAGTGACTCTCTCTGGCA	0.584												
NUDT1	4521	broad.mit.edu	37	7	2284328	2284330	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:2284328_2284330delAAG	uc003slp.1	+	3	290_292	c.188_190delAAG	c.(187-192)CAAGAA>CAA	p.E64del	FTSJ2_uc003slk.2_5'Flank|FTSJ2_uc003sll.2_5'Flank|FTSJ2_uc003slm.2_5'Flank|FTSJ2_uc003sln.2_5'Flank|FTSJ2_uc003slo.2_5'Flank|NUDT1_uc003slq.1_In_Frame_Del_p.E41del|NUDT1_uc003slr.1_In_Frame_Del_p.E41del|NUDT1_uc003sls.1_In_Frame_Del_p.E64del|NUDT1_uc003slt.1_In_Frame_Del_p.E41del|NUDT1_uc003slu.1_In_Frame_Del_p.E64del|NUDT1_uc003slv.1_In_Frame_Del_p.E41del	NM_198949	NP_945187	P36639	8ODP_HUMAN	nudix-type motif 1 isoform p22	82	Nudix box.|Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding				0		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GGCAAAGTGCAAGAAGGAGAGAC	0.517								Direct_reversal_of_damage|Modulation_of_nucleotide_pools				
RADIL	55698	broad.mit.edu	37	7	4841484	4841484	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:4841484delG	uc003snj.1	-	12	2815	c.2642delC	c.(2641-2643)CCTfs	p.P881fs	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Frame_Shift_Del_p.P386fs|RADIL_uc011jwc.1_Frame_Shift_Del_p.P641fs|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_Frame_Shift_Del_p.P177fs	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	881	Pro-rich.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TTGCCTTCCAGGGGGGGCCTG	0.726												
GLI3	2737	broad.mit.edu	37	7	42005573	42005573	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:42005573delG	uc011kbh.1	-	15	3189	c.3098delC	c.(3097-3099)CCGfs	p.P1033fs	GLI3_uc011kbg.1_Frame_Shift_Del_p.P974fs	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1033					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GGCCATCGCCGGGGGGTTGCA	0.701									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
RUNDC3B	154661	broad.mit.edu	37	7	87258157	87258157	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:87258157delG	uc003ujb.2	+	1	429	c.18delG	c.(16-18)CTGfs	p.L6fs	ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc011khe.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc003ujc.2_Frame_Shift_Del_p.L6fs	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	6										skin(1)	1	Esophageal squamous(14;0.00164)					CCCGGAGCCTGGGGGGCCTGA	0.701												
FEZF1	389549	broad.mit.edu	37	7	121943770	121943771	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:121943770_121943771insT	uc003vkd.2	-	1	795_796	c.721_722insA	c.(721-723)ATCfs	p.I241fs	FEZF1_uc003vkc.2_Frame_Shift_Ins_p.I191fs|uc010lko.1_RNA|uc003vkf.1_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	241					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3						TTTGAACGCGATTTTTTCCGAC	0.495												
SMO	6608	broad.mit.edu	37	7	128852004	128852004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:128852004delC	uc003vor.2	+	12	2356	c.2076delC	c.(2074-2076)CACfs	p.H692fs	SMO_uc003vos.2_3'UTR	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	692	Cytoplasmic (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						CTGAGCTTCACCCCCCTGCCC	0.592			Mis		skin basal cell 							
SSPO	23145	broad.mit.edu	37	7	149501110	149501110	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:149501110delG	uc010lpk.2	+	57	8246	c.8246delG	c.(8245-8247)TGGfs	p.W2749fs		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2749	TSP type-1 6.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGGCAGCCTGGGGGGGTGCC	0.667												
ARHGEF10	9639	broad.mit.edu	37	8	1871167	1871167	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:1871167delT	uc003wpr.2	+	19	2359	c.2181delT	c.(2179-2181)GATfs	p.D727fs	ARHGEF10_uc003wpq.1_Frame_Shift_Del_p.D751fs|ARHGEF10_uc003wps.2_Frame_Shift_Del_p.D689fs|ARHGEF10_uc003wpv.2_Frame_Shift_Del_p.D460fs|ARHGEF10_uc010lre.2_Frame_Shift_Del_p.D407fs	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	752					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGTATCAAGATTTACAAAACT	0.328												
MFHAS1	9258	broad.mit.edu	37	8	8750406	8750406	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:8750406delG	uc003wsj.1	-	1	726	c.163delC	c.(163-165)CAGfs	p.Q55fs		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	55											0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		AGCACGAGCTGGGGGGAGGCG	0.582												
EPB49	2039	broad.mit.edu	37	8	21927823	21927823	+	Frame_Shift_Del	DEL	C	C	-	rs141465910		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:21927823delC	uc011kyt.1	+	8	811	c.582delC	c.(580-582)TGCfs	p.C194fs	EPB49_uc010ltl.2_Frame_Shift_Del_p.C194fs|EPB49_uc011kys.1_Frame_Shift_Del_p.C154fs|EPB49_uc010ltn.2_Frame_Shift_Del_p.C169fs|EPB49_uc011kyu.1_Frame_Shift_Del_p.C194fs|EPB49_uc011kyv.1_Frame_Shift_Del_p.C194fs|EPB49_uc010ltq.2_Frame_Shift_Del_p.C194fs	NM_001114136	NP_001107608	Q08495	DEMA_HUMAN	erythrocyte membrane protein band 4.9 isoform 1	194					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)	1				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		ACTGGCCATGCCCCCCGTCTC	0.592												
BIN3	55909	broad.mit.edu	37	8	22487477	22487477	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:22487477delT	uc003xcl.2	-	6	435	c.338delA	c.(337-339)AAGfs	p.K113fs	BIN3_uc003xck.2_Frame_Shift_Del_p.K65fs|BIN3_uc010ltw.2_Frame_Shift_Del_p.K59fs	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN	bridging integrator 3	113	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity				0		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ATTTACTCACTTTTTTAAGGG	0.532												
SOX17	64321	broad.mit.edu	37	8	55372287	55372288	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:55372287_55372288insC	uc003xsb.3	+	2	1181_1182	c.977_978insC	c.(976-978)CACfs	p.H326fs		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	326	Gln/Pro-rich.|Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			caccagcaccaCCCCCCGGGCC	0.535												
RRS1	23212	broad.mit.edu	37	8	67341501	67341501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:67341501delC	uc003xwa.2	+	1	239	c.135delC	c.(133-135)AACfs	p.N45fs		NM_015169	NP_055984	Q15050	RRS1_HUMAN	homolog of yeast ribosome biogenesis regulatory	45					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus					0		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CGGACCGGAACCCCCCGACCG	0.672											OREG0018806	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ARFGEF1	10565	broad.mit.edu	37	8	68128856	68128856	+	Frame_Shift_Del	DEL	G	G	-	rs142098461		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:68128856delG	uc003xxo.1	-	33	5045	c.4655delC	c.(4654-4656)CCAfs	p.P1552fs	ARFGEF1_uc003xxl.1_Frame_Shift_Del_p.P1006fs|ARFGEF1_uc003xxn.1_Frame_Shift_Del_p.P535fs	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGATGGAGGTGGGGGGGCAGT	0.423												
SLCO5A1	81796	broad.mit.edu	37	8	70744246	70744246	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:70744246delG	uc003xyl.2	-	2	1370	c.663delC	c.(661-663)CCCfs	p.P221fs	SLCO5A1_uc010lzb.2_Frame_Shift_Del_p.P221fs|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Frame_Shift_Del_p.P221fs|SLCO5A1_uc010lzc.2_Frame_Shift_Del_p.P221fs	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	221	Extracellular (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGATCTGGTAGGGGGGCGAGA	0.677												
SLC10A5	347051	broad.mit.edu	37	8	82606649	82606650	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:82606649_82606650insA	uc011lfs.1	-	1	558_559	c.558_559insT	c.(556-561)TTTCTGfs	p.F186fs		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	solute carrier family 10 (sodium/bile acid	186_187	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity				0						AATGGCATCAGAAAAAACTGTG	0.450												
LYPD2	137797	broad.mit.edu	37	8	143832494	143832495	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:143832494_143832495insT	uc003ywz.2	-	2	235_236	c.152_153insA	c.(151-153)AAGfs	p.K51fs		NM_205545	NP_991108	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2 precursor	51	UPAR/Ly6.					anchored to membrane|plasma membrane					0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGAGTGTGGTCTTGCACATGGT	0.649												
KIAA2026	158358	broad.mit.edu	37	9	5968162	5968162	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:5968162delT	uc003zjq.3	-	3	2285	c.2069delA	c.(2068-2070)AAGfs	p.K690fs		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	690	Lys-rich.									ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTTCAATTTCTTTTTTTTCTT	0.333												
CNTLN	54875	broad.mit.edu	37	9	17484353	17484353	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:17484353delA	uc003zmz.2	+	24	3939	c.3913delA	c.(3913-3915)AAAfs	p.K1305fs	CNTLN_uc003zmy.2_Frame_Shift_Del_p.K1306fs|CNTLN_uc010mio.2_Frame_Shift_Del_p.K985fs	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1306	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGAGAGCTTAAAAAAATGAA	0.398												
PIGO	84720	broad.mit.edu	37	9	35091415	35091416	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:35091415_35091416delCA	uc003zwd.2	-	7	2864_2865	c.2468_2469delTG	c.(2467-2469)GTGfs	p.V823fs	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Frame_Shift_Del_p.V386fs	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	823					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GATAAGCAGCCACAGTCAGGGG	0.564												
KIAA1539	80256	broad.mit.edu	37	9	35108148	35108148	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:35108148delC	uc003zwl.2	-	3	449	c.124delG	c.(124-126)GCGfs	p.A42fs	KIAA1539_uc003zwm.2_Frame_Shift_Del_p.A42fs|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Frame_Shift_Del_p.A42fs|KIAA1539_uc003zwp.1_Frame_Shift_Del_p.A42fs|KIAA1539_uc010mkk.1_RNA	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	42						nucleus				ovary(2)	2	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGGGATGTCGCCCCCCCTGCT	0.657												
TMEM2	23670	broad.mit.edu	37	9	74347430	74347430	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:74347430delG	uc011lsa.1	-	7	1940	c.1400delC	c.(1399-1401)CCTfs	p.P467fs	TMEM2_uc010mos.2_Frame_Shift_Del_p.P404fs|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	467						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CAGGAACTGAGGGGTTTCTGG	0.408												
GAPVD1	26130	broad.mit.edu	37	9	128064303	128064303	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:128064303delT	uc010mwx.2	+	5	553	c.227delT	c.(226-228)ATTfs	p.I76fs	GAPVD1_uc004bpo.2_Frame_Shift_Del_p.I76fs|GAPVD1_uc011lzs.1_Frame_Shift_Del_p.I76fs|GAPVD1_uc004bpp.2_Frame_Shift_Del_p.I76fs|GAPVD1_uc004bpq.2_Frame_Shift_Del_p.I76fs|GAPVD1_uc004bpr.2_Frame_Shift_Del_p.I76fs|GAPVD1_uc004bps.2_Frame_Shift_Del_p.I76fs|GAPVD1_uc010mwy.1_5'UTR	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	76					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						CATGCCAAAATTTTGGAAGAT	0.343												
RPL7A	6130	broad.mit.edu	37	9	136216817	136216819	+	In_Frame_Del	DEL	GAG	GAG	-	rs147624133		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:136216817_136216819delGAG	uc004cde.1	+	4	355_357	c.325_327delGAG	c.(325-327)GAGdel	p.E109del	MED22_uc004cdc.2_5'Flank|MED22_uc004cdd.2_5'Flank|RPL7A_uc004cdf.1_5'UTR|SNORD36B_uc010nai.1_5'Flank|SNORD36A_uc010naj.2_5'Flank|SNORD36C_uc010nak.2_5'Flank	NM_000972	NP_000963	P62424	RL7A_HUMAN	ribosomal protein L7a	109					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		GACAAAGCAAGAGAAGAAGCAGA	0.537												
KIAA0649	9858	broad.mit.edu	37	9	138378661	138378661	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:138378661delC	uc004cfr.1	+	4	2854	c.2305delC	c.(2305-2307)CCCfs	p.P769fs		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	769						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		TGGGAAGAAACCCCCCAGTGT	0.677												
LHX3	8022	broad.mit.edu	37	9	139090598	139090598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:139090598delC	uc004cha.2	-	5	772	c.675delG	c.(673-675)GGGfs	p.G225fs	LHX3_uc004cgz.2_Frame_Shift_Del_p.G230fs	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN	LIM homeobox protein 3 isoform a	225					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GGAAATACTGCCCCCAGCGCT	0.697												
SEC16A	9919	broad.mit.edu	37	9	139370379	139370379	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:139370379delA	uc004chx.2	-	3	1998	c.1689delT	c.(1687-1689)TTTfs	p.F563fs	SEC16A_uc004chv.3_Frame_Shift_Del_p.F190fs|SEC16A_uc004chw.2_Frame_Shift_Del_p.F563fs|SEC16A_uc010nbn.2_Frame_Shift_Del_p.F563fs|SEC16A_uc010nbo.1_Frame_Shift_Del_p.F563fs	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	385					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CGATTTGCTTAAAAAAACTAC	0.547												
ARAF	369	broad.mit.edu	37	X	47426415	47426415	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:47426415delC	uc011mlq.1	+	9	891	c.758delC	c.(757-759)ACCfs	p.T253fs	ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_Frame_Shift_Del_p.T119fs|ARAF_uc011mlp.1_Frame_Shift_Del_p.T253fs|ARAF_uc004dic.1_Frame_Shift_Del_p.T34fs	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	253					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	AGTGATGGAACCCCCCGGGGG	0.652												
HEPH	9843	broad.mit.edu	37	X	65409636	65409636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:65409636delT	uc011moz.1	+	6	988	c.928delT	c.(928-930)TTTfs	p.F310fs	HEPH_uc004dwn.2_Frame_Shift_Del_p.F310fs|HEPH_uc004dwo.2_Frame_Shift_Del_p.F40fs|HEPH_uc010nkr.2_Frame_Shift_Del_p.F310fs|HEPH_uc011mpa.1_Frame_Shift_Del_p.F310fs	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	307	Extracellular (Potential).|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						CCACACAGCATTTTTCCATGG	0.493												
CYSLTR1	10800	broad.mit.edu	37	X	77528573	77528573	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:77528573delT	uc004edb.2	-	3	1071	c.671delA	c.(670-672)AATfs	p.N224fs	CYSLTR1_uc010nma.2_Frame_Shift_Del_p.N224fs|CYSLTR1_uc010nmb.2_Frame_Shift_Del_p.N224fs	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	224	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			ovary(1)	1					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	ACTTGACAGATTTTTTTTCAT	0.328												
POU3F4	5456	broad.mit.edu	37	X	82763837	82763837	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:82763837delC	uc004eeg.2	+	1	569	c.505delC	c.(505-507)CCCfs	p.P169fs		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	169					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCTCCGAGAGCCCCCGGATCA	0.632												
GPRASP2	114928	broad.mit.edu	37	X	101970978	101970978	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:101970978delA	uc004ejk.2	+	4	2515	c.1181delA	c.(1180-1182)GAAfs	p.E394fs	GPRASP2_uc004ejl.2_Frame_Shift_Del_p.E394fs|GPRASP2_uc004ejm.2_Frame_Shift_Del_p.E394fs|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	394						cytoplasm	protein binding			ovary(1)	1						TTCTGGGCAGAAAAAGAGGCC	0.532												
NRK	203447	broad.mit.edu	37	X	105150563	105150564	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:105150563_105150564insA	uc004emd.2	+	11	1305_1306	c.1002_1003insA	c.(1000-1005)ATTAAAfs	p.I334fs	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	334_335							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						CTGGAATCATTAAAAAAAGACA	0.307										HNSCC(51;0.14)		
GUCY2F	2986	broad.mit.edu	37	X	108708521	108708521	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:108708521delG	uc004eod.3	-	3	1158	c.882delC	c.(880-882)CCCfs	p.P294fs	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	294	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						GGACCCGGTAGGGGGTGTGCT	0.463												
SRPK3	26576	broad.mit.edu	37	X	153050207	153050208	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153050207_153050208insA	uc004fil.2	+	12	1283_1284	c.1251_1252insA	c.(1249-1254)CACAAGfs	p.H417fs	SRPK3_uc004fik.2_Frame_Shift_Ins_p.H483fs|SRPK3_uc010nul.2_Frame_Shift_Ins_p.H341fs|SRPK3_uc004fin.2_Frame_Shift_Ins_p.H416fs|SRPK3_uc004fim.2_Frame_Shift_Ins_p.H383fs	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3	417_418	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTCCAGCACAAGCACTTCAC	0.683												
AVPR2	554	broad.mit.edu	37	X	153171693	153171693	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153171693delG	uc004fjh.3	+	2	804	c.733delG	c.(733-735)GGGfs	p.G245fs	AVPR2_uc004fjg.3_Frame_Shift_Del_p.G34fs|AVPR2_uc004fji.2_Frame_Shift_Del_p.G245fs	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	245	Cytoplasmic (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	AGAGAGGCCTGGGGGGCGCCG	0.652												
TAS1R3	83756	broad.mit.edu	37	1	1266836	1266837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:1266835_1266836T>TG	uc010nyk.2	+	0	110_111	c.110_111T>TG	c.(109-111)ctgfs	p.L37fs		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	37					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GACTACGTGCTGGGGGGGCTGT	0.693												
KLHL21	9903	broad.mit.edu	37	1	6653683	6653683	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:6653682_6653682TC>T	uc001aoa.3	-	3	1589	c.1537_1537GA>A	c.(1537-1539)aagfs	p.K513fs	KLHL21_uc001anz.1_3'UTR|KLHL21_uc009vme.3_Frame_Shift_Del_p.K146fs	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	Homo sapiens kelch-like 21 (Drosophila) (KLHL21), mRNA.	513					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		ACGTACAGCTTCCCCCCAAGG	0.632												
ARID1A	8289	broad.mit.edu	37	1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACA	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
MACF1	23499	broad.mit.edu	37	1	39799060	39799061	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:39799059_39799060A>AG	uc021olw.1	+	0	2119_2120	c.2119_2120A>AG	c.(2119-2121)aggfs	p.R707fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2272					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391												
PABPC4	8761	broad.mit.edu	37	1	40028016	40028016	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:40028015_40028015TG>T	uc001cdl.2	-	12	2640	c.1742_1742CA>A	c.(1741-1743)cagfs	p.Q581fs	PPIEL_uc001cdk.3_5'Flank|PABPC4_uc010oiv.1_Frame_Shift_Del_p.Q565fs|PABPC4_uc001cdm.2_Frame_Shift_Del_p.Q552fs	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	565	PABC.				RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTTCTGTTCCTGGGGGGGTGC	0.602												
HIVEP3	59269	broad.mit.edu	37	1	42046124	42046125	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:42046123_42046124C>CT	uc001cgz.4	-	3	5558_5559	c.4345_4346G>AG	c.(4345-4347)agafs	p.R1449fs	HIVEP3_uc001cha.4_Frame_Shift_Ins_p.R1449fs|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1449					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.R1449I(2)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCCTTCACTCTTTTTTGCTGC	0.530												
ODF2L	57489	broad.mit.edu	37	1	86826142	86826143	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:86826141_86826142G>GT	uc001dll.2	-	11	1583_1584	c.1221_1222C>AC	c.(1219-1224)aaacagfs	p.K407fs	ODF2L_uc001dlp.3_Frame_Shift_Ins_p.K407fs|ODF2L_uc010osg.2_Frame_Shift_Ins_p.K378fs|ODF2L_uc001dlm.2_Frame_Shift_Ins_p.K378fs|ODF2L_uc021opg.1_Frame_Shift_Ins_p.K247fs|ODF2L_uc001dlq.2_Frame_Shift_Ins_p.K208fs|ODF2L_uc009wcr.2_Frame_Shift_Ins_p.K247fs	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN	Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.	407						centrosome		p.K378fs*22(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		AGGGTTTTCTGTTTTTTTTCTA	0.287												
COL11A1	1301	broad.mit.edu	37	1	103385868	103385868	+	Splice_Site	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:103385867_103385867CT>C	uc001dum.3	-	49	4116	c.3798_splice	c.e49+1	p.K1266_splice	COL11A1_uc001duk.3_Splice_Site_p.K450_splice|COL11A1_uc001dul.3_Splice_Site_p.K1254_splice|COL11A1_uc001dun.3_Splice_Site_p.K1215_splice|COL11A1_uc009weh.3_Splice_Site_p.K1138_splice	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1254	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACATATTTACCTTTTCTCCAA	0.368												
AMPD2	271	broad.mit.edu	37	1	110169810	110169810	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:110169809_110169809AC>A	uc009wfh.1	+	7	1435	c.893_893AC>A	c.(892-894)cacfs	p.H298fs	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Frame_Shift_Del_p.H217fs|AMPD2_uc001dyc.1_Frame_Shift_Del_p.H298fs|AMPD2_uc010ovr.1_Frame_Shift_Del_p.H223fs|AMPD2_uc010ovs.1_Frame_Shift_Del_p.H180fs|AMPD2_uc001dyd.1_Frame_Shift_Del_p.H179fs|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	298					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCCCGGTGCACCCCCCTGCG	0.652												
ADORA3	140	broad.mit.edu	37	1	112045811	112045812	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:112045810_112045811A>AT	uc001ebh.4	-	0	933_934	c.166_167T>AT	c.(166-168)ctgfs	p.L56fs	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Frame_Shift_Ins_p.L56fs	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	56					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AATGTCAGCCAGGGCTAGAGAG	0.535												
ITGA10	8515	broad.mit.edu	37	1	145537735	145537736	+	Splice_Site	DEL	AG	AG	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:145537734_145537735CAG>C	uc001eoa.3	+	21	2651	c.2575_splice	c.e21-2	p.R859_splice	ITGA10_uc010oyv.2_Splice_Site_p.R728_splice|ITGA10_uc009wiw.3_Splice_Site_p.R716_splice|ITGA10_uc010oyw.2_Splice_Site_p.R804_splice	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	859					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCCTGCCCTCAGAGAGAGAGC	0.579												
ZNF687	57592	broad.mit.edu	37	1	151259458	151259458	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:151259457_151259457TC>T	uc001exq.3	+	1	788	c.690_690TC>T	c.(688-690)catfs	p.H230fs	ZNF687_uc001exp.1_Frame_Shift_Del_p.H239fs|ZNF687_uc009wmo.3_Frame_Shift_Del_p.H230fs|ZNF687_uc009wmp.3_Frame_Shift_Del_p.H230fs	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	230	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCCCCATCATCCCCAGGTCC	0.632												
FLG	2312	broad.mit.edu	37	1	152286885	152286885	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:152286884_152286884CT>C	uc001ezu.1	-	2	514	c.478_478AG>G	c.(478-480)gaafs	p.E160fs	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	160					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTTTCTTTCTTTTTTTTCA	0.338									Ichthyosis			
NUP210L	91181	broad.mit.edu	37	1	153965404	153965404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:153965403_153965403TA>T	uc001fdw.3	-	39	5647	c.5575_5575TA>A	c.(5575-5577)aacfs	p.N1859fs	NUP210L_uc009woq.3_Frame_Shift_Del_p.N768fs|NUP210L_uc010peh.2_Frame_Shift_Del_p.N1707fs	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1859				FNSTSSPPHFMSLQP -> LTPQVLPLTS (in Ref. 1; BAC86345).		integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTTGTGGAGTTAAAAAAACCT	0.438												
PYGO2	90780	broad.mit.edu	37	1	154932028	154932028	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:154932027_154932027TG>T	uc001fft.3	-	2	655	c.449_449CA>A	c.(448-450)cagfs	p.Q150fs		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	150	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	p.Q150fs*27(4)		endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCAGGACCCTGGGGGGGCAT	0.622												
SHC1	6464	broad.mit.edu	37	1	154938468	154938468	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:154938467_154938467TG>T	uc001ffv.3	-	9	1560	c.1339_1339CA>A	c.(1339-1341)aatfs	p.N447fs	SHC1_uc001ffw.3_Frame_Shift_Del_p.N448fs|SHC1_uc001ffx.3_Frame_Shift_Del_p.N338fs|SHC1_uc001ffy.3_Frame_Shift_Del_p.N337fs|SHC1_uc001ffz.1_Frame_Shift_Del_p.N218fs	NM_183001	NP_001189788	P29353	SHC1_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA.	447	CH1.|Pro-rich.				Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth	Shc-EGFR complex|cytosol|mitochondrial matrix	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATAGCAGGATTGGGGGGCCCA	0.567												
MEF2D	4209	broad.mit.edu	37	1	156438036	156438036	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:156438035_156438035TG>T	uc001fpc.3	-	10	1694	c.1304_1304CA>A	c.(1303-1305)cacfs	p.H435fs	MEF2D_uc001fpb.3_Frame_Shift_Del_p.H428fs|MEF2D_uc001fpd.3_Frame_Shift_Del_p.H428fs|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Frame_Shift_Del_p.H435fs	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA.	435					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GATGCTGATGTGGGGGTGGGT	0.652												
KCNJ10	3766	broad.mit.edu	37	1	160012018	160012018	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:160012017_160012017CG>C	uc001fuw.2	-	1	546	c.306_306CG>G	c.(304-306)ccgfs	p.P102fs		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	102						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTGGTTGGCCGGGGGGTCCA	0.582												
USP21	27005	broad.mit.edu	37	1	161134660	161134660	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:161134659_161134659CA>C	uc010pkc.2	+	11	1796	c.1419_1419CA>C	c.(1417-1419)atcfs	p.I473fs	USP21_uc010pkd.2_Frame_Shift_Del_p.I473fs|USP21_uc021pbv.1_Non-coding_Transcript|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	473					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAGGCTCCATCAAAAAAAGTT	0.517												
C1orf192	257177	broad.mit.edu	37	1	161335437	161335438	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:161335436_161335437A>AG	uc001gal.3	-	3	233_234	c.227_228T>CT	c.(226-228)cctfs	p.P76fs		NM_001013625	NP_001013647	Q5VTH2	CA192_HUMAN	Homo sapiens chromosome 1 open reading frame 192 (C1orf192), mRNA.	76										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCACCCGAGCAGGGGGTATCTT	0.520												
MGST3	4259	broad.mit.edu	37	1	165621240	165621241	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:165621239_165621240A>AT	uc001gdf.3	+	3	644_645	c.216_217A>AT	c.(214-219)ttatttfs	p.L72fs		NM_004528	NP_004519	O14880	MGST3_HUMAN	Homo sapiens microsomal glutathione S-transferase 3 (MGST3), mRNA.	72					leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	CTCCCTTCTTATTTTTTCTAGC	0.366												
F5	2153	broad.mit.edu	37	1	169499051	169499051	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:169499050_169499050CT>C	uc001ggg.1	-	15	5360	c.5215_5215AG>G	c.(5215-5217)gatfs	p.D1739fs		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1739	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GAGTGAATATCTTTTTCCTGG	0.373												
F13B	2165	broad.mit.edu	37	1	197030158	197030158	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:197030157_197030157TG>T	uc001gtt.1	-	3	544	c.500_500CA>A	c.(499-501)cagfs	p.Q167fs		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	167	Sushi 3.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GAATGTTTTCTGTGTTGTGGA	0.308												
PTPN7	5778	broad.mit.edu	37	1	202128443	202128443	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:202128442_202128442GT>G	uc001gxn.2	-	1	1185	c.89_89AC>C	c.(88-90)acgfs	p.T30fs	PTPN7_uc001gxl.2_Frame_Shift_Del_p.T69fs|PTPN7_uc001gxm.2_Frame_Shift_Del_p.T135fs|PTPN7_uc010ppx.2_Frame_Shift_Del_p.T104fs|PTPN7_uc010ppw.2_5'UTR|PTPN7_uc010ppy.2_Non-coding_Transcript|PTPN7_uc001gxo.1_5'Flank	NM_002832	NP_002823	P35236	PTN7_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 7 (PTPN7), transcript variant 1, mRNA.	30						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CTTGGCTGGCGTTTTTTCAGG	0.637												
PIK3C2B	5287	broad.mit.edu	37	1	204416660	204416661	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:204416659_204416660A>AG	uc001haw.3	-	15	2872_2873	c.2393_2394T>CT	c.(2392-2394)cctfs	p.P798fs	PIK3C2B_uc010pqv.2_Frame_Shift_Ins_p.P798fs	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	798					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ACTTGTCTCCAGGGGGGCTGGT	0.545												
FAIM3	9214	broad.mit.edu	37	1	207087395	207087395	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:207087394_207087394TC>T	uc001hey.3	-	1	262	c.83_83GA>A	c.(82-84)gagfs	p.E28fs	FAIM3_uc010prz.2_Intron|FAIM3_uc021pif.1_Frame_Shift_Del_p.E28fs|FAIM3_uc010psa.2_5'UTR	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 3 (FAIM3), transcript variant 1, mRNA.	28					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TCCGCCCAGCTCCCCCTCTAC	0.542												
RAB3GAP2	25782	broad.mit.edu	37	1	220369665	220369666	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:220369664_220369665A>AT	uc010puk.1	-	9	1051_1052	c.887_888T>AT	c.(886-888)aatfs	p.N296fs	RAB3GAP2_uc021pjf.1_Frame_Shift_Ins_p.N296fs|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_5'UTR	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	296					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CAGGTGGACTATTTTTAATTGC	0.356												
HHIPL2	79802	broad.mit.edu	37	1	222713509	222713509	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:222713508_222713508TG>T	uc001hnh.1	-	3	1352	c.1294_1294CA>A	c.(1294-1296)atcfs	p.I432fs		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	432					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TGGCGCGTGATGGGGTCCCCT	0.577												
PYCR2	29920	broad.mit.edu	37	1	226108959	226108959	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:226108958_226108958GC>G	uc010pvj.2	-	4	680	c.525_525GC>C	c.(523-525)ggcfs	p.G175fs	PYCR2_uc001hpq.3_Frame_Shift_Del_p.G249fs			Q96C36	P5CR2_HUMAN	Homo sapiens left-right determination factor 1 (LEFTY1), mRNA.	249					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	GAGAGCGGAAGCCCCCACTCT	0.592												
C1orf131	128061	broad.mit.edu	37	1	231362513	231362513	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:231362512_231362512CT>C	uc001hul.3	-	4	703	c.666_666AG>G	c.(664-666)aagfs	p.K222fs	C1orf131_uc001hum.3_Frame_Shift_Del_p.K221fs|C1orf131_uc001hun.1_Frame_Shift_Del_p.K222fs|C1orf131_uc010pwd.1_Frame_Shift_Del_p.K221fs	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN	Homo sapiens chromosome 1 open reading frame 131 (C1orf131), mRNA.	222	Lys-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CCTTTGCTGCCTTTTTTTCTT	0.373												
KIF26B	55083	broad.mit.edu	37	1	245849479	245849479	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:245849478_245849478TC>T	uc001ibf.1	+	11	3633	c.3193_3193TC>T	c.(3193-3195)tccfs	p.S1065fs	KIF26B_uc001ibg.1_Frame_Shift_Del_p.S683fs|KIF26B_uc001ibh.1_Frame_Shift_Del_p.S307fs	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1065					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCCCATGGGCTCCCCCCGGCT	0.662												
NLRP3	114548	broad.mit.edu	37	1	247587978	247587978	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr1:247587977_247587977TC>T	uc001icr.3	+	4	1370	c.1232_1232TC>T	c.(1231-1233)atcfs	p.I411fs	NLRP3_uc001ics.3_Frame_Shift_Del_p.I411fs|NLRP3_uc001icu.3_Frame_Shift_Del_p.I411fs|NLRP3_uc001icw.3_Frame_Shift_Del_p.I411fs|NLRP3_uc001icv.3_Frame_Shift_Del_p.I411fs|NLRP3_uc010pyw.2_Frame_Shift_Del_p.I409fs|NLRP3_uc001ict.1_Frame_Shift_Del_p.I409fs	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	411	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATGTGCTTCATCCCCCTGGTC	0.547												
GRHL1	29841	broad.mit.edu	37	2	10140800	10140801	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:10140799_10140800C>CG	uc002raa.3	+	15	1992_1993	c.1821_1822C>CG	c.(1819-1824)gccgggfs	p.A607fs	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Frame_Shift_Ins_p.A418fs|GRHL1_uc010yjb.2_Frame_Shift_Ins_p.A456fs	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	607					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	p.G419W(1)|p.G608W(1)|p.S421fs*6(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TTGAAGAAGCCGGGGGGTCTTA	0.545												
HS1BP3	64342	broad.mit.edu	37	2	20840864	20840864	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:20840863_20840863TG>T	uc002rdw.1	-	2	317	c.276_276CA>A	c.(274-276)ccafs	p.P92fs	HS1BP3_uc002rdx.3_Frame_Shift_Del_p.P92fs|HS1BP3_uc002rdy.3_Frame_Shift_Del_p.P92fs	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA.	92	PX.				cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTGGGTAGTGGGGGGAGGC	0.542												
IFT172	26160	broad.mit.edu	37	2	27676932	27676932	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:27676931_27676931GC>G	uc002rku.3	-	32	3680	c.3629_3629GC>C	c.(3628-3630)gccfs	p.A1210fs	IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1210					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTCCTCCAAGGCCCCCCGGGC	0.607												
C2orf71	388939	broad.mit.edu	37	2	29294038	29294038	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:29294037_29294037TG>T	uc002rmt.2	-	0	3091	c.3091_3091CA>A	c.(3091-3093)agcfs	p.S1031fs		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	1031	Pro-rich.				response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACAGGTGGGCTGGGGGGCGTC	0.667												
TTC27	55622	broad.mit.edu	37	2	32859010	32859010	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:32859009_32859009GC>G	uc002rom.3	+	2	606	c.333_333GC>G	c.(331-333)gggfs	p.G111fs	TTC27_uc010ymx.2_Frame_Shift_Del_p.G61fs|MIR4765_uc021vfs.1_5'Flank	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	111							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ACTGGACGGGGCCCCCTGTTG	0.368												
OXER1	165140	broad.mit.edu	37	2	42991089	42991090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:42991088_42991089A>AC	uc002rss.3	-	0	313_314	c.231_232T>GT	c.(229-234)gggtccfs	p.G77fs		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	77	Ser-rich.				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	p.S78fs*61(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						CCTCCAGAGGACCCCCCCACAG	0.634												
RHOQ	23433	broad.mit.edu	37	2	46808174	46808174	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:46808173_46808173TA>T	uc002rva.3	+	4	888	c.569_569TA>T	c.(568-570)gtafs	p.V190fs	BC048424_uc002rvb.3_5'Flank	NM_012249	NP_036381	P17081	RHOQ_HUMAN	Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.	190					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAACACACTGTAAAAAAAAGA	0.368												
CCDC88A	55704	broad.mit.edu	37	2	55561622	55561623	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:55561621_55561622A>AT	uc002ryv.2	-	14	3177_3178	c.2335_2336T>AT	c.(2335-2337)atcfs	p.I779fs	CCDC88A_uc010ypa.1_Frame_Shift_Ins_p.I779fs|CCDC88A_uc010yoz.1_Frame_Shift_Ins_p.I779fs|CCDC88A_uc010ypb.1_Frame_Shift_Ins_p.I681fs|CCDC88A_uc002ryu.2_Frame_Shift_Ins_p.I62fs|CCDC88A_uc002ryw.3_Frame_Shift_Ins_p.I62fs	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	779					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.I779fs*7(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TAATTGCTGGATTTTTTTATTG	0.327												
CCDC88A	55704	broad.mit.edu	37	2	55561925	55561925	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:55561924_55561924GT>G	uc002ryv.2	-	14	2875	c.2033_2033AC>C	c.(2032-2034)acafs	p.T678fs	CCDC88A_uc010ypa.1_Frame_Shift_Del_p.T678fs|CCDC88A_uc010yoz.1_Frame_Shift_Del_p.T678fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.T580fs|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.3_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	678					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GCTATCCAATGTTTTTTTTAA	0.289												
DCTN1	1639	broad.mit.edu	37	2	74593377	74593377	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:74593376_74593376TG>T	uc002skx.3	-	22	3073	c.2755_2755CA>A	c.(2755-2757)agcfs	p.S919fs	SLC4A5_uc002skl.3_5'Flank|DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Frame_Shift_Del_p.S785fs|DCTN1_uc002sku.3_Frame_Shift_Del_p.S785fs|DCTN1_uc002skw.2_Frame_Shift_Del_p.S912fs|DCTN1_uc010ffd.3_Frame_Shift_Del_p.S899fs|DCTN1_uc002sky.3_Frame_Shift_Del_p.S882fs	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	919					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGC	0.557												
INO80B	83444	broad.mit.edu	37	2	74682586	74682587	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:74682585_74682586G>GA	uc010yrs.2	+	0	366_367	c.165_166G>GA	c.(163-168)aagaaafs	p.K55fs	INO80B_uc002slg.3_Frame_Shift_Ins_p.K37fs|INO80B_uc010yrr.2_Frame_Shift_Ins_p.K24fs|INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002slj.2_5'Flank|WBP1_uc002sll.2_5'Flank	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	Homo sapiens INO80 complex subunit B (INO80B), mRNA.	37					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GAGTGcacaagaaaaaacacaa	0.574												
GGCX	2677	broad.mit.edu	37	2	85786172	85786173	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:85786171_85786172T>TG	uc002sps.3	-	2	347_348	c.241_242A>CA	c.(241-243)cagfs	p.Q81fs	GGCX_uc010yss.2_5'Flank|GGCX_uc010yst.2_Frame_Shift_Ins_p.Q24fs	NM_000821	NP_000812	P38435	VKGC_HUMAN	Homo sapiens gamma-glutamyl carboxylase (GGCX), transcript variant 1, mRNA.	81					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	CCCCCGCTCCTGGGGAATGTCT	0.554												
CYP27C1	339761	broad.mit.edu	37	2	127944877	127944877	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:127944876_127944876TG>T	uc002tod.2	-	7	1221	c.1090_1090CA>A	c.(1090-1092)atcfs	p.I364fs	CYP27C1_uc021vnn.1_Frame_Shift_Del_p.I364fs	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	364						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CGCACGTGGATGGGCCCCCCT	0.478												
CYP27C1	339761	broad.mit.edu	37	2	127944880	127944881	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:127944879_127944880G>GC	uc002tod.2	-	7	1217_1218	c.1086_1087C>GC	c.(1084-1089)gggcccfs	p.G362fs	CYP27C1_uc021vnn.1_Frame_Shift_Ins_p.G362fs	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	362						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		ACGTGGATGGGCCCCCCTGGCG	0.475												
NXPH2	11249	broad.mit.edu	37	2	139428707	139428708	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:139428706_139428707G>GT	uc002tvi.3	-	1	580_581	c.580_581C>AC	c.(580-582)acafs	p.T194fs		NM_007226	NP_009157	O95156	NXPH2_HUMAN	Homo sapiens neurexophilin 2 (NXPH2), mRNA.	194	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CGCCCGATCTGTTTTTTCATAC	0.500												
KCNJ3	3760	broad.mit.edu	37	2	155711559	155711560	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:155711558_155711559C>CA	uc002tyv.1	+	2	1434_1435	c.1239_1240C>CA	c.(1237-1242)cccaaafs	p.P413fs	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	413					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.F412F(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AAGACTTTCCCAAAAAACTCTT	0.391												
GCG	2641	broad.mit.edu	37	2	163003895	163003896	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:163003894_163003895C>CA	uc002ucc.3	-	2	478_479	c.222_223G>TG	c.(220-225)tttgtgfs	p.F74fs		NM_002054	NP_002045	P01275	GLUC_HUMAN	Homo sapiens glucagon (GCG), mRNA.	74					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	AACCACTGCACAAAATCTTGGG	0.436												
SP5	389058	broad.mit.edu	37	2	171573060	171573060	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:171573059_171573059AC>A	uc002uge.3	+	1	508	c.342_342AC>A	c.(340-342)acafs	p.T114fs	LOC440925_uc002ugd.2_5'Flank	NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Homo sapiens Sp5 transcription factor (SP5), mRNA.	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						TTCCCCTTACACCCCCCGCCG	0.721												
KIAA1715	80856	broad.mit.edu	37	2	176856973	176856973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:176856972_176856972CA>C	uc010fqw.1	-	3	442	c.442_442TG>G	c.(442-444)gctfs	p.A148fs	KIAA1715_uc010zes.1_Frame_Shift_Del_p.A84fs|KIAA1715_uc002ukd.1_Intron|KIAA1715_uc002ukc.1_Frame_Shift_Del_p.A82fs|KIAA1715_uc010zer.1_Frame_Shift_Del_p.A82fs|KIAA1715_uc010zet.1_Non-coding_Transcript			Q9C0E8	LNP_HUMAN	Homo sapiens KIAA1715 (KIAA1715), mRNA.	82						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AATGGAAAAGCAAAAAATGGG	0.313												
HOXD3	3232	broad.mit.edu	37	2	177033976	177033976	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:177033975_177033975AC>A	uc002ukt.1	+	1	309	c.133_133AC>A	c.(133-135)accfs	p.T45fs		NM_006898	NP_008829	P31249	HXD3_HUMAN	Homo sapiens homeobox D3 (HOXD3), mRNA.	45					Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CGGCTACAGCACCCCCCACCA	0.577												
CASP10	843	broad.mit.edu	37	2	202050593	202050593	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:202050592_202050592TG>T	uc002uxj.1	+	1	510	c.92_92TG>T	c.(91-93)ctgfs	p.L31fs	CASP10_uc002uxi.1_Frame_Shift_Del_p.L31fs|CASP10_uc010zhn.1_Non-coding_Transcript|CASP10_uc010ftb.2_Frame_Shift_Del_p.L31fs|CASP10_uc010fta.1_Frame_Shift_Del_p.L31fs|CASP10_uc002uxk.1_Frame_Shift_Del_p.L31fs|CASP10_uc002uxl.2_Frame_Shift_Del_p.L31fs|CASP10_uc002uxm.2_Frame_Shift_Del_p.L31fs	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	31	DED 1.				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GATTCAAACCTGGGGGTCCAA	0.438												
PARD3B	117583	broad.mit.edu	37	2	206166298	206166299	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:206166297_206166298C>CA	uc002var.2	+	17	2709_2710	c.2502_2503C>CA	c.(2500-2505)gtcaaafs	p.V834fs	PARD3B_uc010fub.2_Frame_Shift_Ins_p.V834fs|PARD3B_uc002vao.2_Frame_Shift_Ins_p.V834fs|PARD3B_uc002vap.2_Frame_Shift_Ins_p.V772fs|PARD3B_uc002vaq.2_Frame_Shift_Ins_p.V765fs	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	834	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction		p.T776fs*13(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCAGGAAAGTCAAAAAAACgaa	0.426												
VIL1	7429	broad.mit.edu	37	2	219301231	219301231	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:219301230_219301230AC>A	uc002vib.3	+	14	1874	c.1852_1852AC>A	c.(1852-1854)accfs	p.T618fs	VIL1_uc010zke.2_Frame_Shift_Del_p.T307fs|VIL1_uc002via.3_Frame_Shift_Del_p.T618fs	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	618	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGGTCATCACCCCCCGGCT	0.502												
SPEG	10290	broad.mit.edu	37	2	220337025	220337026	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:220337024_220337025A>AC	uc010fwg.3	+	14	3911_3912	c.3911_3912A>AC	c.(3910-3912)aacfs	p.N1304fs		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1304	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTCACATGGAACCCCCCCAGGA	0.644												
IRS1	3667	broad.mit.edu	37	2	227659841	227659841	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:227659840_227659840TG>T	uc021vxn.1	-	0	3615	c.3615_3615CA>A	c.(3613-3615)ccafs	p.P1205fs	IRS1_uc002voh.4_Frame_Shift_Del_p.P1205fs	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	1205	Pro-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.P1205A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GATGAGGGGGTGGGGGTGGGG	0.577												
TRIP12	9320	broad.mit.edu	37	2	230668408	230668408	+	Splice_Site	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:230668407_230668407TA>T	uc002vpx.1	-	20	2908	c.2799_splice	c.e20-1	p.S933_splice	TRIP12_uc021vxw.1_Splice_Site_p.S918_splice|TRIP12_uc002vpy.1_Splice_Site_p.S615_splice|TRIP12_uc002vpw.1_Splice_Site_p.S885_splice|TRIP12_uc010zlz.1_Intron	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	885					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GCAATGTGACTAAAAAAAGAA	0.343												
RBM44	375316	broad.mit.edu	37	2	238725800	238725801	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr2:238725799_238725800A>AT	uc002vxi.4	+	2	372_373	c.240_241A>AT	c.(238-243)ccatttfs	p.P80fs		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	79							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TATTAGAGCCATTTTTTTCAGT	0.332												
C3orf32	51066	broad.mit.edu	37	3	8667235	8667236	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:8667234_8667235G>GT	uc011atg.2	-	9	906_907	c.866_867C>AC	c.(865-867)aacfs	p.N289fs	C3orf32_uc003bqz.3_Frame_Shift_Ins_p.N267fs|C3orf32_uc003bqt.3_Frame_Shift_Ins_p.N216fs|C3orf32_uc003bqu.3_Frame_Shift_Ins_p.N267fs|C3orf32_uc003bqv.3_Frame_Shift_Ins_p.N216fs|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Frame_Shift_Ins_p.N267fs	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.	267										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						TTACCACCGAGTTTTCATCCTT	0.530												
OXNAD1	92106	broad.mit.edu	37	3	16343348	16343348	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:16343347_16343347CA>C	uc011awb.2	+	5	821	c.701_701CA>C	c.(700-702)gcafs	p.A234fs	OXNAD1_uc010her.2_Non-coding_Transcript|OXNAD1_uc003caw.3_Frame_Shift_Del_p.A216fs|OXNAD1_uc003cax.3_Frame_Shift_Del_p.A216fs	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN	Homo sapiens oxidoreductase NAD-binding domain containing 1 (OXNAD1), mRNA.	216							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						TTCTACAGTGCAAAAAATACC	0.403												
MYD88	4615	broad.mit.edu	37	3	38180226	38180227	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:38180225_38180226G>GC	uc003chx.3	+	0	257_258	c.73_74G>GC	c.(73-75)gccfs	p.A25fs	ACAA1_uc003cht.3_5'Flank|ACAA1_uc003chu.3_5'Flank|MYD88_uc011ayh.2_Frame_Shift_Ins_p.A25fs|MYD88_uc011ayi.2_Frame_Shift_Ins_p.A25fs|MYD88_uc011ayj.2_Frame_Shift_Ins_p.A25fs|MYD88_uc011ayk.2_Frame_Shift_Ins_p.A25fs|MYD88_uc011ayl.2_Frame_Shift_Ins_p.A25fs	NM_001172567	NP_001166038	Q99836	MYD88_HUMAN	Homo sapiens myeloid differentiation primary response gene (88) (MYD88), transcript variant 1, mRNA.	12					3'-UTR-mediated mRNA stabilization|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	TIR domain binding|death receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGGGTCTGCGGCCCCGGTCTCC	0.688			Mis		ABC-DLBCL							
FLNB	2317	broad.mit.edu	37	3	58089788	58089788	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:58089787_58089787TG>T	uc003djj.2	+	9	1750	c.1585_1585TG>T	c.(1585-1587)tggfs	p.W529fs	FLNB_uc010hne.2_Frame_Shift_Del_p.W529fs|FLNB_uc003djk.2_Frame_Shift_Del_p.W529fs|FLNB_uc010hnf.2_Frame_Shift_Del_p.W529fs|FLNB_uc003djl.2_Frame_Shift_Del_p.W360fs|FLNB_uc003djm.2_Frame_Shift_Del_p.W360fs	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	529					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGCCATCACATGGGGGGGACA	0.592												
NSUN3	63899	broad.mit.edu	37	3	93783345	93783346	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:93783344_93783345G>GA	uc003drl.1	+	1	192_193	c.76_77G>GA	c.(76-78)gaafs	p.E26fs	DHFRL1_uc003dri.3_5'Flank|DHFRL1_uc003drj.3_5'Flank|DHFRL1_uc021xbk.1_5'Flank	NM_022072	NP_071355	Q9H649	NSUN3_HUMAN	Homo sapiens NOP2/Sun domain family, member 3 (NSUN3), mRNA.	26							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						GGATCATTTTGAAAAACAGTAT	0.371												
COL8A1	1295	broad.mit.edu	37	3	99514822	99514822	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:99514821_99514821CA>C	uc003dti.1	+	2	2207	c.2079_2079CA>C	c.(2077-2079)tacfs	p.Y693fs	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Frame_Shift_Del_p.Y692fs|COL8A1_uc003dth.1_Frame_Shift_Del_p.Y692fs	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	692	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ACGACGAGTACAAAAAGGGCT	0.567												
ZDHHC23	254887	broad.mit.edu	37	3	113672641	113672641	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:113672640_113672640CA>C	uc003eau.3	+	2	554	c.255_255CA>C	c.(253-255)gccfs	p.A85fs	ZDHHC23_uc003eav.3_Frame_Shift_Del_p.A79fs	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	Homo sapiens zinc finger, DHHC-type containing 23 (ZDHHC23), mRNA.	85						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						TTAGGGGAGCCAAAAAAGTGA	0.468												
POLQ	10721	broad.mit.edu	37	3	121151775	121151777	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:121151774_121151776ATCT>A	uc003eee.4	-	28	7777_7779	c.7648_7650AGAT>T	c.(7648-7650)gat>T	p.D2550del	POLQ_uc003eed.3_In_Frame_Del_p.D1722del	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	2550					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCTGAACAACATCTTCTTCTGCC	0.438								DNA polymerases (catalytic subunits)				
PARP14	54625	broad.mit.edu	37	3	122432364	122432366	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:122432363_122432365AAAG>A	uc003efq.4	+	9	3771_3773	c.3712_3714AAAG>A	c.(3712-3714)aaa>A	p.K1238del	PARP14_uc021xdc.1_In_Frame_Del_p.K1102del|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_In_Frame_Del_p.K955del|PARP14_uc003efs.1_In_Frame_Del_p.K955del	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	1238	Macro 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGATATCACGAAAGAAGAGGCAG	0.389												
MYLK	4638	broad.mit.edu	37	3	123385184	123385185	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:123385183_123385184A>AG	uc003ego.3	-	21	3995_3996	c.3713_3714T>CT	c.(3712-3714)cctfs	p.P1238fs	MYLK_uc010hrr.3_5'Flank|MYLK_uc011bjv.2_Frame_Shift_Ins_p.P38fs|MYLK_uc011bjw.2_Frame_Shift_Ins_p.P1238fs|MYLK_uc003egp.3_Frame_Shift_Ins_p.P1169fs|MYLK_uc003egq.3_Frame_Shift_Ins_p.P1238fs|MYLK_uc003egr.3_Frame_Shift_Ins_p.P1169fs|MYLK_uc003egs.3_Frame_Shift_Ins_p.P1062fs	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1238	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGATGATCTGAGGGGGCATTGC	0.564												
ARL14	80117	broad.mit.edu	37	3	160395474	160395474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:160395473_160395473TA>T	uc003fdq.3	+	0	526	c.339_339TA>T	c.(337-339)attfs	p.I113fs		NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	Homo sapiens ADP-ribosylation factor-like 14 (ARL14), mRNA.	113					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			ATGAACACATTAAAAATGTGC	0.438												
B3GNT5	84002	broad.mit.edu	37	3	182987617	182987617	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:182987616_182987616CA>C	uc003flm.3	+	1	553	c.30_30CA>C	c.(28-30)gtcfs	p.V10fs	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Frame_Shift_Del_p.V10fs|B3GNT5_uc003fll.3_Frame_Shift_Del_p.V10fs|B3GNT5_uc021xic.1_Frame_Shift_Del_p.V10fs	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	10					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCAGAAGAGTCAAAAAATGGC	0.373												
CHRD	8646	broad.mit.edu	37	3	184100472	184100472	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:184100471_184100471AG>A	uc003fov.3	+	7	1137	c.891_891AG>A	c.(889-891)gtafs	p.V297fs	CHRD_uc003fow.3_5'UTR|CHRD_uc003fox.3_Frame_Shift_Del_p.V297fs|CHRD_uc003foy.3_5'UTR|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'UTR	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	297	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCAGGGCGTAGGGGGCATCA	0.602												
TMEM41A	90407	broad.mit.edu	37	3	185212518	185212519	+	Frame_Shift_Ins	INS	-	-	A	rs150885877	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr3:185212517_185212518G>GA	uc003fpj.2	-	3	563_564	c.467_468C>TC	c.(466-468)ttcfs	p.F156fs	TMEM41A_uc003fpl.2_3'UTR	NM_080652	NP_542383	Q96HV5	TM41A_HUMAN	Homo sapiens transmembrane protein 41A (TMEM41A), mRNA.	156						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446												
GRK4	2868	broad.mit.edu	37	4	2986251	2986252	+	Frame_Shift_Ins	INS	-	-	A	rs141511339		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:2986250_2986251C>CA	uc003ggn.1	+	1	518_519	c.63_64C>CA	c.(61-66)ggcaaafs	p.G21fs	GRK4_uc003ggo.1_Frame_Shift_Ins_p.G21fs|GRK4_uc003ggp.1_Intron|GRK4_uc003ggq.1_Intron	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	21	N-terminal.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGGATATGGCAAAAAAAGTGG	0.381												
SEC31A	22872	broad.mit.edu	37	4	83763594	83763595	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:83763593_83763594A>AC	uc003hnh.3	-	21	2847_2848	c.2667_2668T>GT	c.(2665-2670)gggtcafs	p.G889fs	SEC31A_uc003hnd.3_Frame_Shift_Ins_p.G45fs|SEC31A_uc003hne.3_Frame_Shift_Ins_p.G653fs|SEC31A_uc011ccl.2_Frame_Shift_Ins_p.G850fs|SEC31A_uc003hnl.3_Intron|SEC31A_uc003hng.3_Frame_Shift_Ins_p.G889fs|SEC31A_uc011ccm.2_Frame_Shift_Ins_p.G884fs|SEC31A_uc003hni.3_Intron|SEC31A_uc003hnk.3_Frame_Shift_Ins_p.G850fs|SEC31A_uc003hnf.3_Frame_Shift_Ins_p.G889fs|SEC31A_uc011ccn.2_Frame_Shift_Ins_p.G889fs|SEC31A_uc003hnm.3_Frame_Shift_Ins_p.G889fs	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	889	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TACATTGCTGACCCCCCTGTTC	0.460												
CDS1	1040	broad.mit.edu	37	4	85525495	85525496	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:85525494_85525495C>CA	uc011ccv.2	+	1	714_715	c.216_217C>CA	c.(214-219)ctcaaafs	p.L72fs		NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	72					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CTGAGATTCTCAAAAAAGCTCT	0.376												
WDFY3	23001	broad.mit.edu	37	4	85676453	85676453	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:85676452_85676452TA>T	uc003hpd.3	-	33	5934	c.5526_5526TA>A	c.(5524-5526)ttafs	p.L1842fs		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1842						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTCCCAATAATAAAAAAACAG	0.423												
HERC5	51191	broad.mit.edu	37	4	89407334	89407334	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:89407333_89407333AT>A	uc003hrt.3	+	13	1958	c.1805_1805AT>A	c.(1804-1806)aatfs	p.N602fs	HERC5_uc011cdm.2_Frame_Shift_Del_p.N240fs	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	Homo sapiens hect domain and RLD 5 (HERC5), mRNA.	602					ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CACCGTCTCAATTTTTTTGTA	0.348												
SCLT1	132320	broad.mit.edu	37	4	129964625	129964625	+	Splice_Site	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:129964624_129964624TA>T	uc003igp.2	-	4	668	c.162_splice	c.e4-1	p.S54_splice	SCLT1_uc003igq.2_Splice_Site_p.S54_splice|SCLT1_uc010iob.1_Splice_Site_p.S54_splice|SCLT1_uc003igr.2_Splice_Site_p.S54_splice|SCLT1_uc003igt.4_Splice_Site_p.S54_splice	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	54						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GCTAAAAAGCTAAAAAAAGAC	0.269												
HHIP	64399	broad.mit.edu	37	4	145567956	145567957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr4:145567955_145567956A>AC	uc003ijs.2	+	0	808_809	c.128_129A>AC	c.(127-129)aacfs	p.N43fs	LOC646576_uc003ijq.2_5'Flank|HHIP_uc003ijr.2_Frame_Shift_Ins_p.N43fs	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	43	Arg-rich.					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTGAATGGGAACCCCCCGAAGC	0.589												
CLPTM1L	81037	broad.mit.edu	37	5	1331941	1331942	+	In_Frame_Ins	INS	-	-	TCT	rs143530499	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:1331940_1331941C>CTCT	uc003jch.3	-	7	995_996	c.949_950G>AGAG	c.(949-951)agc>AGAGc	p.S317R	CLPTM1L_uc003jcg.3_In_Frame_Ins_p.S184R	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Homo sapiens CLPTM1-like (CLPTM1L), mRNA.	317					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GCCGATCATGCTCTTCTTCTTC	0.540												
PDZD2	23037	broad.mit.edu	37	5	31799657	31799658	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:31799656_31799657A>AG	uc003jhl.3	+	1	689_690	c.301_302A>AG	c.(301-303)aggfs	p.R101fs	PDZD2_uc003jhm.3_Frame_Shift_Ins_p.R101fs	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	101	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574												
SLC1A3	6507	broad.mit.edu	37	5	36679799	36679800	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:36679798_36679799T>TG	uc003jkj.4	+	6	1406_1407	c.930_931T>TG	c.(928-933)attgggfs	p.I310fs	SLC1A3_uc011cox.2_Frame_Shift_Ins_p.I203fs|SLC1A3_uc010iuy.3_Frame_Shift_Ins_p.I310fs	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520												
FYB	2533	broad.mit.edu	37	5	39203040	39203040	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:39203039_39203039GC>G	uc003jls.3	-	0	91	c.24_24GC>C	c.(22-24)ggcfs	p.G8fs	FYB_uc003jlt.3_Frame_Shift_Del_p.G8fs|FYB_uc003jlu.3_Frame_Shift_Del_p.G8fs|FYB_uc011cpl.2_Frame_Shift_Del_p.G18fs	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	8					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTGTCGGGTTGCCCCCCGTGT	0.448												
PPWD1	23398	broad.mit.edu	37	5	64865508	64865509	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:64865507_64865508G>GA	uc003jtv.4	+	2	355_356	c.348_349G>GA	c.(346-351)tggaaafs	p.W116fs	PPWD1_uc011cqv.2_Frame_Shift_Ins_p.W86fs|PPWD1_uc011cqw.2_5'UTR	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	Homo sapiens peptidylprolyl isomerase domain and WD repeat containing 1 (PPWD1), mRNA.	116					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TCAAGTTCTGGAAAAAAATAGA	0.317												
BDP1	55814	broad.mit.edu	37	5	70837319	70837320	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:70837318_70837319T>TA	uc003kbp.1	+	28	6323_6324	c.6060_6061T>TA	c.(6058-6063)gataaafs	p.D2020fs	BDP1_uc003kbo.3_Frame_Shift_Ins_p.D2020fs|BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	2020					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATTCAAAGGATAAAAGCCATAT	0.297												
ZNF366	167465	broad.mit.edu	37	5	71743139	71743139	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:71743138_71743138AG>A	uc003kce.1	-	3	1817	c.1631_1631CT>T	c.(1630-1632)ctgfs	p.L544fs		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTTCCCCTTCAGGGTGAATTT	0.532												
POLK	51426	broad.mit.edu	37	5	74893609	74893610	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:74893608_74893609C>CA	uc003kdw.3	+	13	2618_2619	c.2522_2523C>CA	c.(2521-2523)acafs	p.T841fs	POLK_uc003kdx.3_Non-coding_Transcript|POLK_uc003kdy.3_Non-coding_Transcript|POLK_uc010izq.3_Frame_Shift_Ins_p.T643fs|POLK_uc003kec.3_Frame_Shift_Ins_p.T751fs|POLK_uc010izr.3_Non-coding_Transcript|POLK_uc010izs.3_Non-coding_Transcript|POLK_uc003ked.3_3'UTR|POLK_uc003kee.3_3'UTR	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	Homo sapiens polymerase (DNA directed) kappa (POLK), mRNA.	841					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTAACAAGAACAAAAAGGTATG	0.248								DNA polymerases (catalytic subunits)				
DMXL1	1657	broad.mit.edu	37	5	118480239	118480239	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:118480238_118480238GA>G	uc010jcl.1	+	14	2655	c.2474_2474GA>G	c.(2473-2475)agafs	p.R825fs	DMXL1_uc003ksd.2_Frame_Shift_Del_p.R825fs|DMXL1_uc021ycw.1_Frame_Shift_Del_p.R652fs	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	825										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAGCATGGCAGAAAAACCCAA	0.313												
SRFBP1	153443	broad.mit.edu	37	5	121356130	121356131	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:121356129_121356130C>CA	uc003kst.1	+	5	771_772	c.699_700C>CA	c.(697-702)accaaafs	p.T233fs		NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	Homo sapiens serum response factor binding protein 1 (SRFBP1), mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TAAGTCAAACCAAAAAAAACAA	0.401												
ADAMTS19	171019	broad.mit.edu	37	5	129030454	129030455	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:129030453_129030454C>CA	uc003kvb.1	+	18	2841_2842	c.2841_2842C>CA	c.(2839-2844)agcaaafs	p.S947fs	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	947	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAATCATGAGCAAAAATATCAG	0.351												
GPRIN1	114787	broad.mit.edu	37	5	176026665	176026665	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:176026664_176026664TG>T	uc003meo.1	-	1	347	c.172_172CA>A	c.(172-174)aggfs	p.R58fs	GPRIN1_uc021yif.1_Frame_Shift_Del_p.R58fs	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	58						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGTGTGCCTGGGGGGTGCA	0.657												
BTNL8	79908	broad.mit.edu	37	5	180374580	180374581	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr5:180374579_180374580A>AT	uc003mmp.3	+	3	975_976	c.741_742A>AT	c.(739-744)ctatttfs	p.L247fs	BTNL8_uc003mmq.3_Frame_Shift_Ins_p.L247fs|BTNL8_uc010jll.3_Frame_Shift_Ins_p.L247fs|BTNL8_uc011dhg.2_Frame_Shift_Ins_p.L122fs|BTNL8_uc010jlm.3_Frame_Shift_Ins_p.L131fs|BTNL8_uc011dhh.2_Frame_Shift_Ins_p.L63fs	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	247						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGTGGCCTATTTTTTGGCAT	0.446												
JARID2	3720	broad.mit.edu	37	6	15496636	15496637	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:15496635_15496636C>CG	uc003nbj.3	+	6	1423_1424	c.1179_1180C>CG	c.(1177-1182)ctcgggfs	p.L393fs	JARID2_uc011diu.1_Frame_Shift_Ins_p.L257fs|JARID2_uc011div.2_Frame_Shift_Ins_p.L221fs|JARID2_uc011diw.1_Frame_Shift_Ins_p.L355fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	393					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.L393L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGCTATCCCTCGGGGGGGCGTC	0.574												
SLC17A3	10786	broad.mit.edu	37	6	25861923	25861923	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:25861922_25861922AC>A	uc003nfk.4	-	4	665	c.555_555GT>T	c.(553-555)ggtfs	p.G185fs	SLC17A3_uc003nfi.4_Frame_Shift_Del_p.G107fs|SLC17A3_uc011djz.1_Frame_Shift_Del_p.G185fs|SLC17A3_uc011dka.1_Frame_Shift_Del_p.G107fs	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	107					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TTGCAAACTGACCCCCAAGTA	0.393												
RDBP	7936	broad.mit.edu	37	6	31926206	31926206	+	Frame_Shift_Del	DEL	G	G	-	rs146039608		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:31926205_31926205CG>C	uc003nyk.3	-	1	223	c.19_19CG>G	c.(19-21)ggafs	p.G7fs	RDBP_uc011dot.2_Frame_Shift_Del_p.G7fs|RDBP_uc021yvb.1_Frame_Shift_Del_p.G7fs|MIR1236_uc021yvc.1_5'Flank|SKIV2L_uc003nyn.1_5'Flank|SKIV2L_uc011dou.1_5'Flank|SKIV2L_uc011dov.1_5'Flank	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	7					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						TCGCTCAGTCCGGGGGGTATC	0.542												
VPS52	6293	broad.mit.edu	37	6	33219711	33219712	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:33219710_33219711A>AC	uc003odm.1	-	17	2042_2043	c.1832_1833T>GT	c.(1831-1833)ggtfs	p.G611fs	HCG25_uc021ywj.1_Intron|VPS52_uc003odn.1_Frame_Shift_Ins_p.G422fs	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	611					protein transport	Golgi apparatus|endosome membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATGCCACTAAACCCCCAAAAGG	0.485												
FKBP5	2289	broad.mit.edu	37	6	35543652	35543655	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:35543651_35543654ACTGT>A	uc011dte.1	-	10	1535_1538	c.1332_1335ACAGT>T	c.(1330-1335)gacagtfs	p.D444fs	FKBP5_uc003okx.2_Frame_Shift_Del_p.D444fs|FKBP5_uc011dtf.1_Frame_Shift_Del_p.D265fs|FKBP5_uc003oky.2_Frame_Shift_Del_p.D444fs	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	444					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CCATTGCTTGACTGTCTGTTCCTT	0.495												
LMBRD1	55788	broad.mit.edu	37	6	70500277	70500277	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:70500276_70500276GA>G	uc003pfa.3	-	1	434	c.158_158TC>C	c.(157-159)tctfs	p.S53fs	LMBRD1_uc003pez.3_5'UTR|LMBRD1_uc010kal.3_5'UTR|LMBRD1_uc003pfb.3_Non-coding_Transcript	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA.	53					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	p.S53C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						AATTGCTAGAGAAAAAATTGC	0.348												
DDX43	55510	broad.mit.edu	37	6	74117732	74117732	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:74117731_74117731TA>T	uc003pgw.3	+	8	1430	c.1086_1086TA>T	c.(1084-1086)cttfs	p.L362fs	DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	362	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TAGAAGAGCTTAAAAAAGGTG	0.323												
SYNCRIP	10492	broad.mit.edu	37	6	86324832	86324832	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:86324831_86324831AC>A	uc003pla.2	-	10	2056	c.1515_1515GT>T	c.(1513-1515)ggtfs	p.G505fs	SYNCRIP_uc003pku.3_Frame_Shift_Del_p.G505fs|SYNCRIP_uc003pkv.3_Frame_Shift_Del_p.G505fs|SYNCRIP_uc003pkw.3_Frame_Shift_Del_p.G470fs|SYNCRIP_uc003pkx.3_Frame_Shift_Del_p.G353fs|SYNCRIP_uc003pky.3_Frame_Shift_Del_p.G407fs|SYNCRIP_uc003pkz.2_Frame_Shift_Del_p.G470fs	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	505	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		ATGGAGCAGCACCCCTTGCTC	0.527												
CASP8AP2	9994	broad.mit.edu	37	6	90578754	90578755	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:90578753_90578754C>CA	uc003pnr.3	+	7	5940_5941	c.5744_5745C>CA	c.(5743-5745)gcafs	p.A1915fs	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Frame_Shift_Ins_p.A1915fs|CASP8AP2_uc011dzz.2_Frame_Shift_Ins_p.A1915fs	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	1915	NCOA2-binding.				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGTCTTTCTGCAAAAAATGTTA	0.386												
GRIK2	2898	broad.mit.edu	37	6	102503432	102503433	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:102503431_102503432C>CA	uc003pqp.4	+	14	2831_2832	c.2538_2539C>CA	c.(2536-2541)tccaaafs	p.S846fs	GRIK2_uc010kcw.3_Frame_Shift_Ins_p.S846fs|GRIK2_uc003pqo.4_Frame_Shift_Ins_p.S846fs|GRIK2_uc021zdk.1_Frame_Shift_Ins_p.S659fs|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	846					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.N849fs*12(1)|p.N849fs*14(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TATACAAATCCAAAAAAAACGC	0.351												
NR2E1	7101	broad.mit.edu	37	6	108508599	108508600	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:108508598_108508599C>CA	uc003psg.3	+	8	1844_1845	c.1089_1090C>CA	c.(1087-1092)ttcaaafs	p.F363fs		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 1 (NR2E1), mRNA.	363	Required for transcriptional repression (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		AAGTGTTTTTCAAAAAAACCAT	0.406												
IL20RA	53832	broad.mit.edu	37	6	137323176	137323176	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:137323175_137323175CG>C	uc003qhj.3	-	6	1615	c.1182_1182CG>G	c.(1180-1182)ccgfs	p.P394fs	IL20RA_uc011edl.2_Frame_Shift_Del_p.P345fs|IL20RA_uc003qhk.3_Frame_Shift_Del_p.P283fs|IL20RA_uc003qhi.3_Frame_Shift_Del_p.P126fs	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	394						integral to membrane	receptor activity	p.P394L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CTGTTTTATCCGGGGGTATTG	0.468												
SYNE1	23345	broad.mit.edu	37	6	152762391	152762392	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:152762390_152762391A>AT	uc021zhb.1	-	29	4246_4247	c.4023_4024T>AT	c.(4021-4026)aaatggfs	p.K1341fs	SYNE1_uc003qot.4_Frame_Shift_Ins_p.K1348fs|SYNE1_uc003qou.4_Frame_Shift_Ins_p.K1341fs|SYNE1_uc010kjb.1_Frame_Shift_Ins_p.K1324fs|SYNE1_uc003qow.3_Frame_Shift_Ins_p.K636fs|SYNE1_uc003qox.1_Frame_Shift_Ins_p.K857fs	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1341					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATCGCTCCCATTTTCTTAATG	0.317										HNSCC(10;0.0054)		
MLLT4	4301	broad.mit.edu	37	6	168370556	168370557	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr6:168370555_168370556C>CA	uc021zik.1	+	32	5605_5606	c.5286_5287C>CA	c.(5284-5289)tccaatfs	p.S1762fs	MLLT4_uc021zij.1_Frame_Shift_Ins_p.S1724fs|MLLT4_uc021zim.1_Frame_Shift_Ins_p.S1362fs	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1805					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AAGATGTATCCAATAAAGTGAA	0.406			T	MLL	AL							
PRKAR1B	5575	broad.mit.edu	37	7	720281	720281	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:720280_720280CG>C	uc003siu.2	-	2	394	c.261_261CG>G	c.(259-261)ccgfs	p.P87fs	PRKAR1B_uc021zyi.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc003siv.3_Frame_Shift_Del_p.P87fs|PRKAR1B_uc021zyj.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc021zyk.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc003siw.2_Frame_Shift_Del_p.P87fs	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	87	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	p.P87T(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CCACAGGGTTCGGGGGGGTGG	0.622												
C7orf50	84310	broad.mit.edu	37	7	1037311	1037311	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:1037310_1037310AG>A	uc003sju.2	-	4	606	c.536_536CT>T	c.(535-537)ctgfs	p.L179fs	C7orf50_uc011jvt.1_Frame_Shift_Del_p.L179fs|C7orf50_uc011jvu.1_Frame_Shift_Del_p.L179fs	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN	Homo sapiens chromosome 7 open reading frame 50 (C7orf50), transcript variant 1, mRNA.	179							protein binding	p.L179fs*>17(2)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CCTCCCCGGCAGGGGGGGATC	0.721												
DNAH11	8701	broad.mit.edu	37	7	21934308	21934308	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:21934307_21934307CA>C	uc003svc.3	+	78	12869	c.12838_12838CA>C	c.(12838-12840)caafs	p.Q4280fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4280					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAGATAATGCAAAAAAATTC	0.348									Kartagener syndrome			
SFRP4	6424	broad.mit.edu	37	7	37953883	37953883	+	Splice_Site	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:37953882_37953882TA>T	uc003tfo.4	-	3	913	c.527_splice	c.e3-1	p.D176_splice		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	Homo sapiens secreted frizzled-related protein 4 (SFRP4), mRNA.	176					Wnt receptor signaling pathway|brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of JNK cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGCACCGATCTAAAAAAGGCA	0.428												
POLM	27434	broad.mit.edu	37	7	44120414	44120414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:44120413_44120413TG>T	uc003tjt.3	-	1	383	c.291_291CA>A	c.(289-291)ccafs	p.P97fs	POLM_uc003tju.3_Frame_Shift_Del_p.P97fs|POLM_uc003tjv.3_Non-coding_Transcript|POLM_uc003tjx.2_Frame_Shift_Del_p.P97fs|POLM_uc011kbt.1_5'UTR|POLM_uc003tjz.4_Frame_Shift_Del_p.P97fs|POLM_uc003tka.1_5'Flank|POLM_uc011kbu.1_Frame_Shift_Del_p.P97fs|POLM_uc010kxy.2_Frame_Shift_Del_p.P97fs	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	Homo sapiens polymerase (DNA directed), mu (POLM), mRNA.	97	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCAGCAGAGCTGGGGGGGTGC	0.637								DNA polymerases (catalytic subunits)				
FIGNL1	63979	broad.mit.edu	37	7	50514009	50514009	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:50514008_50514008CT>C	uc003tpd.3	-	3	1348	c.978_978AG>G	c.(976-978)aagfs	p.K326fs	FIGNL1_uc003tpb.3_Frame_Shift_Del_p.K215fs|FIGNL1_uc003tpc.3_Frame_Shift_Del_p.K326fs|FIGNL1_uc003tpe.3_Frame_Shift_Del_p.K326fs|FIGNL1_uc010kyy.3_Frame_Shift_Del_p.K326fs|FIGNL1_uc022ada.1_Frame_Shift_Del_p.K326fs	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	326					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CTCCTAGAGACTTTTTTACAC	0.433												
ELN	2006	broad.mit.edu	37	7	73461040	73461040	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:73461039_73461039TG>T	uc003tzw.3	+	11	676	c.585_585TG>T	c.(583-585)tttfs	p.F195fs	ELN_uc003tzm.1_Intron|ELN_uc003tzn.3_Frame_Shift_Del_p.F195fs|ELN_uc003tzy.3_Frame_Shift_Del_p.F190fs|ELN_uc003tzz.3_Frame_Shift_Del_p.F173fs|ELN_uc003tzo.3_Frame_Shift_Del_p.F195fs|ELN_uc003tzp.3_Frame_Shift_Del_p.F151fs|ELN_uc003tzq.3_Frame_Shift_Del_p.F92fs|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Frame_Shift_Del_p.F195fs|ELN_uc003tzt.3_Frame_Shift_Del_p.F200fs|ELN_uc003tzu.3_Frame_Shift_Del_p.F200fs|ELN_uc003tzv.3_Frame_Shift_Del_p.F185fs|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Frame_Shift_Del_p.F185fs|ELN_uc011kff.2_Frame_Shift_Del_p.F195fs	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	195					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TTGGACCCTTTGGGGGACCGC	0.597			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""					
TMEM60	85025	broad.mit.edu	37	7	77423301	77423301	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:77423300_77423300CA>C	uc003ugn.3	-	1	618	c.391_391TG>G	c.(391-393)gtgfs	p.V131fs	TMEM60_uc022ago.1_Frame_Shift_Del_p.V131fs	NM_032936	NP_116325	Q9H2L4	TMM60_HUMAN	Homo sapiens transmembrane protein 60 (TMEM60), mRNA.	131						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						CAGTCTCTCACAAAAAAGACA	0.388												
MAGI2	9863	broad.mit.edu	37	7	77764526	77764526	+	Splice_Site	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:77764525_77764525TA>T	uc003ugx.3	-	17	3100	c.2846_splice	c.e17-1	p.T949_splice	MAGI2_uc003ugy.3_Splice_Site_p.T935_splice|MAGI2_uc010ldx.1_Splice_Site_p.T542_splice	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	949	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGGGCACAGCTAAAAAAACCC	0.458												
PCLO	27445	broad.mit.edu	37	7	82595608	82595608	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:82595607_82595607GT>G	uc003uhx.2	-	3	3786	c.3497_3497AC>C	c.(3496-3498)acgfs	p.T1166fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.T1166fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1105					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCAGCTTCCGTTTTTACTTC	0.363												
DBF4	10926	broad.mit.edu	37	7	87536670	87536671	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:87536669_87536670G>GA	uc003ujf.1	+	11	1720_1721	c.1216_1217G>GA	c.(1216-1218)gaafs	p.E406fs	DBF4_uc003ujh.1_Frame_Shift_Ins_p.E146fs|DBF4_uc003ujg.1_Frame_Shift_Ins_p.E182fs|DBF4_uc011khf.1_Frame_Shift_Ins_p.E173fs	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA.	406					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CCAGGAAACTGAAAAAAAGCTC	0.381												
ZKSCAN1	7586	broad.mit.edu	37	7	99631140	99631140	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:99631139_99631139CA>C	uc003usk.1	+	5	1230	c.1011_1011CA>C	c.(1009-1011)gacfs	p.D337fs	ZKSCAN1_uc003usl.1_Frame_Shift_Del_p.D301fs|ZKSCAN1_uc003usm.1_Frame_Shift_Del_p.D124fs	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.	337					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TAGGAAAGGACAAAAAAACCA	0.483												
COPS6	10980	broad.mit.edu	37	7	99688867	99688871	+	Frame_Shift_Del	DEL	AACAC	AACAC	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:99688866_99688870GAACAC>G	uc003usu.3	+	7	686_690	c.655_659GAACAC>G	c.(655-660)gaacacfs	p.E219fs	DD413568_uc022aif.1_5'Flank	NM_006833	NP_006824	Q7L5N1	CSN6_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis) (COPS6), mRNA.	219	Interaction with Vpr.				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGCAGTGGCTGAACACCTGATAGCA	0.576												
AP4M1	9179	broad.mit.edu	37	7	99704296	99704296	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:99704295_99704295GC>G	uc003utb.4	+	14	1360	c.1152_1152GC>G	c.(1150-1152)gggfs	p.G384fs	AP4M1_uc010lgl.1_Frame_Shift_Del_p.G359fs|AP4M1_uc003utd.3_Frame_Shift_Del_p.G384fs|AP4M1_uc011kjh.2_Frame_Shift_Del_p.G336fs|AP4M1_uc003ute.4_Frame_Shift_Del_p.G159fs|AP4M1_uc003utf.4_Frame_Shift_Del_p.G256fs	NM_004722	NP_004713	O00189	AP4M1_HUMAN	Homo sapiens adaptor-related protein complex 4, mu 1 subunit (AP4M1), mRNA.	384	MHD.				intracellular protein transport|vesicle-mediated transport	Golgi trans cisterna|clathrin adaptor complex|coated pit	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACGTCCCAGGGCCCCCAGGAC	0.682												
FBXO24	26261	broad.mit.edu	37	7	100187652	100187653	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100187651_100187652A>AG	uc011kjz.1	+	1	273_274	c.205_206A>AG	c.(205-207)aggfs	p.R69fs	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Frame_Shift_Ins_p.R31fs|FBXO24_uc003uvm.1_Frame_Shift_Ins_p.R31fs|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Frame_Shift_Ins_p.R19fs	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	31	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGAAGAGAAGAGGGGGAAAGGA	0.550												
FBXO24	26261	broad.mit.edu	37	7	100192729	100192729	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100192728_100192728AG>A	uc011kjz.1	+	6	1138	c.1070_1070AG>A	c.(1069-1071)cagfs	p.Q357fs	FBXO24_uc003uvl.1_Intron|FBXO24_uc003uvm.1_Frame_Shift_Del_p.Q319fs|FBXO24_uc003uvn.1_Frame_Shift_Del_p.Q14fs|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Frame_Shift_Del_p.Q307fs|LOC100129845_uc022air.1_Intron	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	319						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCCAGACCAGGGGGGAGTG	0.577												
POP7	10248	broad.mit.edu	37	7	100304461	100304461	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100304460_100304460GA>G	uc003uwh.4	+	1	269	c.7_7GA>G	c.(7-9)gaafs	p.E3fs	POP7_uc022ais.1_Frame_Shift_Del_p.E3fs	NM_005837	NP_005828	O75817	POP7_HUMAN	Homo sapiens processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae) (POP7), mRNA.	3					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	p.E3D(1)		endometrium(2)|kidney(1)|ovary(1)	4	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGCATGGCAGAAAACCGAGA	0.602												
TRIP6	7205	broad.mit.edu	37	7	100465746	100465746	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:100465745_100465745AG>A	uc003uww.3	+	2	423	c.253_253AG>A	c.(253-255)aggfs	p.R85fs	TRIP6_uc010lhk.2_5'UTR|TRIP6_uc022aiv.1_Frame_Shift_Del_p.R64fs|TRIP6_uc022ait.1_5'UTR|TRIP6_uc022aiu.1_5'UTR	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA.	85					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCTGCAGACAGGGGGGGCCT	0.642												
SH2B2	10603	broad.mit.edu	37	7	101957767	101957767	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:101957766_101957766AG>A	uc011kko.2	+	5	1212	c.1167_1167AG>A	c.(1165-1167)gcafs	p.A389fs		NM_020979	NP_066189	O14492	SH2B2_HUMAN	Homo sapiens SH2B adaptor protein 2 (SH2B2), mRNA.	433					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						TGGTTCTGGCAGGGGGGCCCC	0.627												
CAPZA2	830	broad.mit.edu	37	7	116546326	116546327	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:116546325_116546326C>CA	uc003vil.3	+	5	538_539	c.435_436C>CA	c.(433-438)ggcaaafs	p.G145fs	CAPZA2_uc011knk.2_Intron	NM_006136	NP_006127	P47755	CAZA2_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 2 (CAPZA2), mRNA.	145					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	F-actin capping protein complex|cytosol|extracellular region	actin binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			AGGTGTATGGCAAAAAAATAGA	0.317												
C7orf58	79974	broad.mit.edu	37	7	120911388	120911389	+	Frame_Shift_Ins	INS	-	-	A	rs141494536	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:120911387_120911388C>CA	uc003vjq.4	+	21	3218_3219	c.2771_2772C>CA	c.(2770-2772)gcafs	p.A924fs		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	924						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					CTGGATACTGCAAAAAAACATG	0.351												
FEZF1	389549	broad.mit.edu	37	7	121943771	121943772	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:121943770_121943771A>AT	uc003vkd.3	-	0	795_796	c.721_722T>AT	c.(721-723)atcfs	p.I241fs	FEZF1_uc003vkc.3_Frame_Shift_Ins_p.I191fs|LOC154860_uc010lko.2_Non-coding_Transcript	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	241					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TTTGAACGCGATTTTTTCCGAC	0.495												
TNPO3	23534	broad.mit.edu	37	7	128610259	128610259	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:128610258_128610258AG>A	uc010lly.2	-	19	3047	c.2644_2644CT>T	c.(2644-2646)tatfs	p.Y882fs	TNPO3_uc010llx.2_Frame_Shift_Del_p.Y259fs|TNPO3_uc003vol.2_Frame_Shift_Del_p.Y848fs|TNPO3_uc010llz.2_Frame_Shift_Del_p.Y784fs|TNPO3_uc003vom.2_Frame_Shift_Del_p.Y782fs	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	848					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	p.E882*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GGTAGGGTATAGGGGGGGAGG	0.488												
TMEM140	55281	broad.mit.edu	37	7	134849483	134849483	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:134849482_134849482GC>G	uc003vsi.3	+	1	570	c.289_289GC>G	c.(289-291)gccfs	p.A97fs	C7orf49_uc003vsh.3_Intron|TMEM140_uc022aly.1_Frame_Shift_Del_p.A97fs	NM_018295	NP_060765	Q9NV12	TM140_HUMAN	Homo sapiens transmembrane protein 140 (TMEM140), mRNA.	97						integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						CACCCTCTTTGCCCCCCAGCC	0.672												
C7orf49	78996	broad.mit.edu	37	7	134851448	134851448	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:134851447_134851447AC>A	uc003vsl.3	-	3	703	c.390_390GT>T	c.(388-390)ggtfs	p.G130fs	C7orf49_uc003vsh.3_Intron|C7orf49_uc003vsj.3_Frame_Shift_Del_p.G101fs|C7orf49_uc022alz.1_3'UTR|C7orf49_uc022ama.1_Frame_Shift_Del_p.G75fs|C7orf49_uc022amb.1_3'UTR|C7orf49_uc003vsm.3_3'UTR|C7orf49_uc003vso.3_Frame_Shift_Del_p.G75fs|C7orf49_uc003vsk.3_3'UTR	NM_024033	NP_001230684	Q9BWK5	MRI_HUMAN	Homo sapiens chromosome 7 open reading frame 49 (C7orf49), transcript variant 1, mRNA.	130						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						CAGAGCTGGAACCCCCCGGCC	0.592												
PDIA4	9601	broad.mit.edu	37	7	148701253	148701255	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:148701252_148701254CTTG>C	uc003wff.2	-	9	1852_1854	c.1570_1572CAAG>G	c.(1570-1572)aag>G	p.K524del		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	524	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TGACGGGTCCCTTGTTGTTCTTG	0.562												
ZNF398	57541	broad.mit.edu	37	7	148875815	148875817	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:148875814_148875816TCTC>T	uc011kum.2	+	6	1006_1008	c.865_867TCTC>T	c.(865-867)tct>T	p.S289del	ZNF398_uc011kul.2_In_Frame_Del_p.S113del|ZNF398_uc003wfl.3_In_Frame_Del_p.S284del	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA.	284					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CCCTTTCTCTTCTCCACCAGCAG	0.488												
ZNF398	57541	broad.mit.edu	37	7	148876153	148876153	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:148876152_148876152AC>A	uc011kum.2	+	6	1344	c.1203_1203AC>A	c.(1201-1203)acafs	p.T401fs	ZNF398_uc011kul.2_Frame_Shift_Del_p.T225fs|ZNF398_uc003wfl.3_Frame_Shift_Del_p.T396fs	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA.	396					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CCAGCGAGACACCCCCCACCT	0.587												
ZNF282	8427	broad.mit.edu	37	7	148895829	148895829	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:148895828_148895828AG>A	uc003wfm.3	+	1	674	c.569_569AG>A	c.(568-570)aagfs	p.K190fs	ZNF282_uc011kun.1_Frame_Shift_Del_p.K190fs|ZNF282_uc003wfn.3_Frame_Shift_Del_p.K130fs|ZNF282_uc003wfo.3_Frame_Shift_Del_p.K130fs	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	190					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CCGGGCAGCAAGGGGGAGGCC	0.592												
SSPO	23145	broad.mit.edu	37	7	149508059	149508059	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr7:149508058_149508058AC>A	uc010lpk.3	+	65	9443	c.9443_9443AC>A	c.(9442-9444)tacfs	p.Y3148fs		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3151					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCACCTCTACCCCCCGGGC	0.607												
FBXO25	26260	broad.mit.edu	37	8	381399	381399	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:381398_381398GA>G	uc003wox.3	+	2	458	c.192_192GA>G	c.(190-192)tcgfs	p.S64fs	FBXO25_uc003woy.3_Frame_Shift_Del_p.S64fs|FBXO25_uc003woz.3_Frame_Shift_Del_p.R14fs	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN	Homo sapiens F-box protein 25 (FBXO25), transcript variant 1, mRNA.	64	Interaction with beta-actin.					SCF ubiquitin ligase complex|nucleus	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		AATATGCATCGAAAAAAAGGA	0.259												
HR	55806	broad.mit.edu	37	8	21984903	21984903	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:21984902_21984902AC>A	uc003xas.3	-	2	1718	c.1053_1053GT>T	c.(1051-1053)ggtfs	p.G351fs	HR_uc003xat.3_Frame_Shift_Del_p.G351fs	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	351							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTCCACTGGCACCCCCCTCCA	0.652												
BMP1	649	broad.mit.edu	37	8	22054260	22054261	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:22054259_22054260A>ACC	uc003xbg.3	+	13	2098_2099	c.1832_1833A>ACC	c.(1831-1833)tacfs	p.Y611fs	BMP1_uc003xbf.3_Frame_Shift_Ins_p.Y360fs|BMP1_uc003xbb.3_Frame_Shift_Ins_p.Y611fs|BMP1_uc003xbc.3_Frame_Shift_Ins_p.Y360fs|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Frame_Shift_Ins_p.Y360fs|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	611	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCCAAGGAGTACCCCCCCAACA	0.604												
ADAM28	10863	broad.mit.edu	37	8	24167473	24167474	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:24167472_24167473G>GA	uc003xdy.3	+	2	299_300	c.216_217G>GA	c.(214-219)ttgaaafs	p.L72fs	ADAM28_uc003xdx.3_Frame_Shift_Ins_p.L72fs|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	72					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCTTTATTTGAAAAAAAACAA	0.332												
SLC10A5	347051	broad.mit.edu	37	8	82606650	82606651	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:82606649_82606650G>GA	uc011lfs.2	-	0	558_559	c.558_559C>TC	c.(556-561)tttctgfs	p.F186fs		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 5 (SLC10A5), mRNA.	186						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AATGGCATCAGAAAAAACTGTG	0.450												
RIMS2	9699	broad.mit.edu	37	8	104927779	104927779	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:104927778_104927778TA>T	uc003yls.3	+	4	1443	c.1202_1202TA>T	c.(1201-1203)gtafs	p.V401fs	RIMS2_uc003ylp.3_Frame_Shift_Del_p.V623fs|RIMS2_uc003ylw.2_Frame_Shift_Del_p.V431fs|RIMS2_uc003ylq.3_Frame_Shift_Del_p.V431fs|RIMS2_uc003ylr.3_Frame_Shift_Del_p.V478fs|RIMS2_uc003ylt.3_Frame_Shift_Del_p.V24fs|RIMS2_uc003ylu.1_Frame_Shift_Del_p.V14fs|RIMS2_uc003ylv.1_Frame_Shift_Del_p.V14fs	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	701					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATTACTAAAGTAAAAAAAGGA	0.323										HNSCC(12;0.0054)		
SLA	6503	broad.mit.edu	37	8	134063100	134063101	+	Frame_Shift_Ins	INS	-	-	G	rs143198289		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:134063099_134063100C>CG	uc011ljd.2	-	1	320_321	c.242_243G>CG	c.(241-243)ccgfs	p.P81fs	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Frame_Shift_Ins_p.P41fs|SLA_uc011lje.2_Frame_Shift_Ins_p.P58fs|SLA_uc011ljf.2_5'UTR|SLA_uc011ljg.2_Frame_Shift_Ins_p.P58fs|SLA_uc010mdy.1_Frame_Shift_Ins_p.P41fs|SLA_uc010mdz.1_Frame_Shift_Ins_p.P41fs|SLA_uc010mea.2_Non-coding_Transcript	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	41	SH3.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GGCGGAATATCGGGGGGCTGAT	0.525												
LYPD2	137797	broad.mit.edu	37	8	143832495	143832496	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr8:143832494_143832495C>CT	uc003ywz.3	-	1	235_236	c.152_153G>AG	c.(151-153)aagfs	p.K51fs		NM_205545	NP_991108	Q6UXB3	LYPD2_HUMAN	Homo sapiens LY6/PLAUR domain containing 2 (LYPD2), mRNA.	51	UPAR/Ly6.					anchored to membrane|plasma membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGAGTGTGGTCTTGCACATGGT	0.649												
TESK1	7016	broad.mit.edu	37	9	35606843	35606844	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:35606842_35606843T>TG	uc003zxa.3	+	3	735_736	c.399_400T>TG	c.(397-402)aatgggfs	p.N133fs	TESK1_uc010mks.3_Frame_Shift_Ins_p.M1fs|MIR4667_uc022bgk.1_5'Flank	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Homo sapiens testis-specific kinase 1 (TESK1), mRNA.	133	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G134G(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			aGTATATGAATGGGGGGACATT	0.579												
RNF38	152006	broad.mit.edu	37	9	36353240	36353240	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:36353239_36353239TG>T	uc003zzh.3	-	6	1190	c.999_999CA>A	c.(997-999)ccafs	p.P333fs	RNF38_uc003zzi.3_Frame_Shift_Del_p.P283fs|RNF38_uc003zzj.3_Frame_Shift_Del_p.P250fs|RNF38_uc003zzk.3_Frame_Shift_Del_p.P250fs|RNF38_uc003zzl.3_Frame_Shift_Del_p.P257fs|RNF38_uc003zzm.3_Frame_Shift_Del_p.P250fs	NM_022781	NP_919313	Q9H0F5	RNF38_HUMAN	Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA.	333	Pro-rich.						zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GAGGTAATGTTGGGGGGTGGG	0.458												
ABCA1	19	broad.mit.edu	37	9	107588115	107588115	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:107588114_107588114CA>C	uc004bcl.3	-	16	2796	c.2392_2392TG>G	c.(2392-2394)gagfs	p.E798fs		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	798					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCCTGCTCCTCAAAAAGGGCA	0.507												
OR2K2	26248	broad.mit.edu	37	9	114089909	114089909	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:114089908_114089908AT>A	uc011lwp.2	-	0	806	c.806_806AT>T	c.(805-807)atafs	p.I269fs		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GATTTTGTCTATTTTTTGTGC	0.393												
ASTN2	23245	broad.mit.edu	37	9	119495717	119495717	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:119495716_119495716AC>A	uc004bjt.2	-	12	2431	c.2330_2330GT>T	c.(2329-2331)gtcfs	p.V777fs	ASTN2_uc022bml.1_Frame_Shift_Del_p.V473fs|ASTN2_uc022bmm.1_Frame_Shift_Del_p.V477fs	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	828						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTCGGAGAGGACCCCCCGGCA	0.612												
TOR2A	27433	broad.mit.edu	37	9	130496604	130496605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:130496603_130496604T>TG	uc004brs.4	-	1	470_471	c.391_392A>CA	c.(391-393)cacfs	p.H131fs	TOR2A_uc022bnq.1_Intron|TOR2A_uc004bru.4_Intron|TOR2A_uc004brv.4_Intron|TOR2A_uc011maj.2_Intron|TOR2A_uc004brt.4_Frame_Shift_Ins_p.H131fs|TOR2A_uc004brw.4_Frame_Shift_Ins_p.H131fs	NM_001085347	NP_001078816	Q5JU69	TOR2A_HUMAN	Homo sapiens torsin family 2, member A (TOR2A), transcript variant 1, mRNA.	131					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						GTGGCTGGGGTGGGGGAAGTGG	0.629											OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NUP214	8021	broad.mit.edu	37	9	134073008	134073009	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:134073007_134073008G>GCC	uc004cag.3	+	28	4237_4238	c.4126_4127G>GCC	c.(4126-4128)gccfs	p.A1376fs	NUP214_uc004cah.3_Frame_Shift_Ins_p.A1366fs|NUP214_uc004cai.3_Frame_Shift_Ins_p.A806fs|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Frame_Shift_Ins_p.A202fs|NUP214_uc011mcf.1_Frame_Shift_Ins_p.A153fs|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1376	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAATTTTACTGCCCCCCCGGTG	0.545			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""							
TTF1	7270	broad.mit.edu	37	9	135277373	135277373	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:135277372_135277372CT>C	uc004cbl.3	-	1	906	c.837_837AG>G	c.(835-837)aagfs	p.K279fs	TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	279	Poly-Lys.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACTTTTTCTTCTTTTTTTTCT	0.478												
GTF3C4	9329	broad.mit.edu	37	9	135554691	135554691	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:135554690_135554690GA>G	uc010mzv.3	+	1	1942	c.1684_1684GA>G	c.(1684-1686)gaafs	p.E562fs	GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	562					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AGAAGCTTTGGAAAAAAAGAT	0.348												
RXRA	6256	broad.mit.edu	37	9	137300040	137300041	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:137300039_137300040G>GC	uc004cfb.2	+	2	486_487	c.324_325G>GC	c.(322-327)aagcccfs	p.K108fs	RXRA_uc004cfc.1_Frame_Shift_Ins_p.K11fs	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	108	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	p.I107I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	AGGACATCAAGCCCCCCCTGGG	0.634												
PNPLA7	375775	broad.mit.edu	37	9	140356679	140356679	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr9:140356678_140356678TG>T	uc010ncj.1	-	30	3935	c.3598_3598CA>A	c.(3598-3600)atcfs	p.I1200fs	PNPLA7_uc004cnd.1_Frame_Shift_Del_p.I422fs|PNPLA7_uc004cne.1_Frame_Shift_Del_p.I441fs|PNPLA7_uc011mfa.1_Frame_Shift_Del_p.I583fs|PNPLA7_uc004cnf.2_Frame_Shift_Del_p.I1175fs|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1175					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TAGCTGTCGATGGGGGGGCGC	0.652												
DNAJC1	64215	broad.mit.edu	37	10	22208818	22208818	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:22208817_22208817CT>C	uc001irc.3	-	4	866	c.579_579AG>G	c.(577-579)aagfs	p.K193fs	DNAJC1_uc021pnz.1_Non-coding_Transcript	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA.	193					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TGCTGCCAGTCTTTTTTTTCT	0.303												
ARHGAP21	57584	broad.mit.edu	37	10	24889807	24889807	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:24889806_24889806AC>A	uc001isb.2	-	13	3388	c.2901_2901GT>T	c.(2899-2901)ggtfs	p.G967fs	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Frame_Shift_Del_p.G967fs|ARHGAP21_uc010qdc.1_Frame_Shift_Del_p.G802fs	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	966	Interaction with ARF1 and ARF6.|PH.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AAAGTGAATGACCCCGAAGGA	0.423												
MYO3A	53904	broad.mit.edu	37	10	26385330	26385330	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:26385329_26385329AT>A	uc001isn.2	+	15	1942	c.1582_1582AT>A	c.(1582-1584)attfs	p.I528fs	MYO3A_uc009xko.1_Frame_Shift_Del_p.I528fs|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Frame_Shift_Del_p.I528fs	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	528	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAATTTTCATATTTTTTACTA	0.318												
SVIL	6840	broad.mit.edu	37	10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:29760115_29760115TC>T	uc001iut.1	-	30	6340	c.5587_5587GA>A	c.(5587-5589)atgfs	p.M1863fs	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Del_p.M777fs|SVIL_uc001iuu.1_Frame_Shift_Del_p.M1437fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1863					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCACCACCATCCCCCCCTGG	0.527												
AGAP8	728404	broad.mit.edu	37	10	48902297	48902297	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:48902296_48902296AG>A	uc009xnv.2	-	2	683	c.577_577CT>T	c.(577-579)tccfs	p.S193fs		NM_001077686	NP_001071154	Q5SRD3	AGAP8_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 (AGAP8), mRNA.	371					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						GCATGAGGGGAGGGGGGTGGG	0.522												
COL13A1	1305	broad.mit.edu	37	10	71654444	71654444	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:71654443_71654443CA>C	uc001jql.3	+	10	1152	c.616_616CA>C	c.(616-618)caafs	p.Q206fs	COL13A1_uc021prz.1_Frame_Shift_Del_p.Q206fs|COL13A1_uc021psa.1_Frame_Shift_Del_p.Q168fs|COL13A1_uc021psb.1_Frame_Shift_Del_p.Q177fs|COL13A1_uc001jqk.2_Frame_Shift_Del_p.Q206fs|COL13A1_uc021psc.1_Frame_Shift_Del_p.Q206fs|COL13A1_uc021psd.1_Frame_Shift_Del_p.Q206fs|COL13A1_uc010qjf.2_Frame_Shift_Del_p.Q168fs|COL13A1_uc021pse.1_Frame_Shift_Del_p.Q177fs|COL13A1_uc021psf.1_Frame_Shift_Del_p.Q206fs|COL13A1_uc021psg.1_Frame_Shift_Del_p.Q206fs|COL13A1_uc021psh.1_Frame_Shift_Del_p.Q206fs	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	206	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	ACCCCAGGGACAAAAAGGAGA	0.473												
PLAU	5328	broad.mit.edu	37	10	75673438	75673439	+	Frame_Shift_Ins	INS	-	-	G	rs145070893	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:75673437_75673438C>CG	uc001jwa.3	+	6	747_748	c.601_602C>CG	c.(601-603)cggfs	p.R201fs	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Frame_Shift_Ins_p.R184fs|PLAU_uc010qkx.2_Frame_Shift_Ins_p.R115fs|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Frame_Shift_Ins_p.R201fs|PLAU_uc009xrq.1_Frame_Shift_Ins_p.R165fs	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	201	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	CAGGAGGCACCGGGGGGGCTCT	0.589												
SLC16A12	387700	broad.mit.edu	37	10	91203598	91203599	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:91203597_91203598C>CA	uc001kgm.3	-	3	520_521	c.219_220G>TG	c.(217-222)tttgtgfs	p.F73fs		NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	43						integral to membrane|plasma membrane	symporter activity	p.P73Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TGGAACTCCACAAAAAAAATTG	0.361												
MYOF	26509	broad.mit.edu	37	10	95157026	95157026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:95157025_95157025AT>A	uc001kin.3	-	14	1436	c.1313_1313AT>T	c.(1312-1314)atafs	p.I438fs	MYOF_uc001kio.3_Frame_Shift_Del_p.I438fs|MYOF_uc001kip.4_Frame_Shift_Del_p.I438fs|MYOF_uc009xuf.2_Frame_Shift_Del_p.I420fs	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	438	C2 3.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTTAGTTTTATTTTTTCACA	0.264												
TM9SF3	56889	broad.mit.edu	37	10	98287018	98287018	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:98287017_98287017TA>T	uc001kmm.4	-	13	1872	c.1655_1655TA>A	c.(1654-1656)tacfs	p.Y552fs		NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	Homo sapiens transmembrane 9 superfamily member 3 (TM9SF3), mRNA.	552						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ATATCCAAAGTAAAATGATGT	0.299												
TRUB1	142940	broad.mit.edu	37	10	116730192	116730192	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:116730191_116730191GC>G	uc001lcd.3	+	4	649	c.588_588GC>G	c.(586-588)gtgfs	p.V196fs	TRUB1_uc010qsl.2_Frame_Shift_Del_p.V98fs|U6_uc021pzh.1_5'Flank	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	Homo sapiens TruB pseudouridine (psi) synthase homolog 1 (E. coli) (TRUB1), mRNA.	196					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGT	0.318												
INPP5F	22876	broad.mit.edu	37	10	121558114	121558115	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:121558113_121558114C>CA	uc001leo.3	+	8	1323_1324	c.1107_1108C>CA	c.(1105-1110)tacaaafs	p.Y369fs		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	369	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TGAACATTTACAAAAAACAGGT	0.302												
DMBT1	1755	broad.mit.edu	37	10	124402883	124402883	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:124402882_124402882AC>A	uc001lgk.1	+	52	7316	c.7210_7210AC>A	c.(7210-7212)accfs	p.T2404fs	DMBT1_uc001lgl.1_Frame_Shift_Del_p.T2394fs|DMBT1_uc001lgm.1_Frame_Shift_Del_p.T1776fs|DMBT1_uc021qaf.1_Frame_Shift_Del_p.T2404fs|DMBT1_uc021qag.1_Frame_Shift_Del_p.T2394fs|DMBT1_uc021qah.1_Frame_Shift_Del_p.T1776fs|DMBT1_uc009xzz.1_Frame_Shift_Del_p.T2403fs|DMBT1_uc010qtx.1_Frame_Shift_Del_p.T1124fs|DMBT1_uc009yab.1_Frame_Shift_Del_p.T1107fs|DMBT1_uc009yac.1_Frame_Shift_Del_p.T698fs	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2404					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGCTGCAGACCCCCCCACG	0.642												
HMX2	3167	broad.mit.edu	37	10	124908149	124908149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:124908148_124908148CT>C	uc001lhc.1	+	0	511	c.254_254CT>C	c.(253-255)cctfs	p.P85fs		NM_005519	NP_005510	A2RU54	HMX2_HUMAN	Homo sapiens H6 family homeobox 2 (HMX2), mRNA.	85					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CCCCCCATCCCTTTTCCTTGC	0.711												
EBF3	253738	broad.mit.edu	37	10	131666125	131666125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr10:131666124_131666124AC>A	uc021qav.1	-	8	866	c.765_765GT>T	c.(763-765)ggtfs	p.G255fs	EBF3_uc001lki.2_Frame_Shift_Del_p.G269fs	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	278					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGACGGTGGCACCCCCCGTGG	0.577												
OR10A6	390093	broad.mit.edu	37	11	7949596	7949596	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:7949595_7949595CA>C	uc010rbh.2	-	0	615	c.615_615TG>G	c.(613-615)ttgfs	p.L205fs		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCAAAATAATCAAAAAGGTGC	0.388												
SWAP70	23075	broad.mit.edu	37	11	9771475	9771476	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:9771474_9771475AAG>A	uc001mhw.3	+	11	1814_1815	c.1715_1716AAG>A	c.(1714-1716)gaafs	p.E572fs	SWAP70_uc001mhx.3_Frame_Shift_Del_p.E514fs	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN	Homo sapiens SWAP switching B-cell complex 70kDa subunit (SWAP70), mRNA.	572						cytoplasm|lamellipodium|nucleus|plasma membrane	DNA binding|calcium ion binding	p.K576fs*>10(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GCAGAACTTGAAGAGAGAGAGA	0.455												
KCNC1	3746	broad.mit.edu	37	11	17794004	17794004	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:17794003_17794003GA>G	uc009yhc.1	+	1	1417	c.1362_1362GA>G	c.(1360-1362)aagfs	p.K454fs	KCNC1_uc001mnk.4_Frame_Shift_Del_p.K454fs	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	454						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AACTACCAAAGAAAAAAAAGA	0.502												
ACCS	84680	broad.mit.edu	37	11	44105022	44105022	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:44105021_44105021CT>C	uc009yks.1	+	13	1446	c.1302_1302CT>C	c.(1300-1302)cgcfs	p.R434fs	EXT2_uc010rfo.2_Intron|ACCS_uc001mxx.2_Frame_Shift_Del_p.R434fs	NM_001127219	NP_115981	Q96QU6	1A1L1_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA.	434							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.R434H(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TCTGGCGCCGCTTTTTGGACA	0.567												
LRP4	4038	broad.mit.edu	37	11	46880748	46880749	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:46880747_46880748G>GC	uc001ndn.4	-	37	5747_5748	c.5504_5505C>GC	c.(5503-5505)ggcfs	p.G1835fs	LOC100507401_uc001ndl.3_Intron|LRP4_uc001ndm.4_Frame_Shift_Ins_p.G77fs	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1835					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564												
LRP4	4038	broad.mit.edu	37	11	46920202	46920202	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:46920201_46920201TC>T	uc001ndn.4	-	6	947	c.704_704GA>A	c.(703-705)gagfs	p.E235fs	LRP4_uc009ylh.2_Frame_Shift_Del_p.E186fs	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	235	LDL-receptor class A 6.				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ACACATGAACTCCCCAGAGCG	0.592												
LRRC55	219527	broad.mit.edu	37	11	56949610	56949611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:56949609_56949610G>GC	uc001njl.2	+	0	389_390	c.242_243G>GC	c.(241-243)tgcfs	p.C81fs		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	51						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GGCACCAGCTGCCCCGTCCTTT	0.649												
TSGA10IP	254187	broad.mit.edu	37	11	65714876	65714876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:65714875_65714875GC>G	uc001ogk.1	+	3	608	c.576_576GC>G	c.(574-576)gagfs	p.E192fs	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	193								p.A192V(1)		endometrium(2)|kidney(3)|lung(9)	14						TAGGATCAGAGCCCCCCAGTG	0.642												
KLC2	64837	broad.mit.edu	37	11	66033664	66033664	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:66033663_66033663AC>A	uc010rov.1	+	13	1945	c.1702_1702AC>A	c.(1702-1704)accfs	p.T568fs	KLC2_uc010row.1_Frame_Shift_Del_p.T568fs|KLC2_uc001ohb.2_Frame_Shift_Del_p.T568fs|KLC2_uc010rox.1_Frame_Shift_Del_p.T491fs|KLC2_uc001ohc.2_Frame_Shift_Del_p.T568fs|KLC2_uc001ohd.2_Frame_Shift_Del_p.T491fs|KLC2_uc001ohe.1_Frame_Shift_Del_p.T429fs|RAB1B_uc001ohf.3_5'Flank	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	568					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GCAGGGGGGCACCCCCCAGGA	0.652												
CNTN5	53942	broad.mit.edu	37	11	99715605	99715605	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:99715604_99715604GT>G	uc001pga.3	+	4	802	c.298_298GT>G	c.(298-300)gttfs	p.V100fs	CNTN5_uc009ywv.2_Frame_Shift_Del_p.V100fs|CNTN5_uc001pfz.3_Frame_Shift_Del_p.V100fs|CNTN5_uc021qpb.1_Frame_Shift_Del_p.V100fs|CNTN5_uc021qpc.1_Frame_Shift_Del_p.V26fs	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	100	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTATGGGCCAGTTTTTGTGCA	0.338												
CUL5	8065	broad.mit.edu	37	11	107965658	107965658	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:107965657_107965657CA>C	uc001pjv.3	+	14	2353	c.1686_1686CA>C	c.(1684-1686)tacfs	p.Y562fs	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	562					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AAGAATTCTACAAAAAAAATC	0.368												
ATM	472	broad.mit.edu	37	11	108216477	108216477	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:108216476_108216476CA>C	uc001pkb.1	+	57	8810	c.8425_8425CA>C	c.(8425-8427)caafs	p.Q2809fs	ATM_uc009yxr.1_Frame_Shift_Del_p.Q2809fs|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Frame_Shift_Del_p.Q1461fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2809	PI3K/PI4K.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAAGGAGGTGCAAAAAAAGTC	0.274			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)		
ZBTB16	7704	broad.mit.edu	37	11	113934300	113934301	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:113934299_113934300C>CA	uc001pop.3	+	1	541_542	c.277_278C>CA	c.(277-279)caafs	p.Q93fs	ZBTB16_uc001poo.1_Frame_Shift_Ins_p.Q93fs|ZBTB16_uc001poq.3_Frame_Shift_Ins_p.Q93fs	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	93	BTB.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGCCACGCTGCAAGCCAAGGCG	0.535												
HINFP	25988	broad.mit.edu	37	11	119005125	119005125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:119005124_119005124TC>T	uc001pvp.3	+	10	1714	c.1470_1470TC>T	c.(1468-1470)cctfs	p.P490fs	HINFP_uc021qrj.1_3'UTR|HINFP_uc001pvq.3_Frame_Shift_Del_p.P490fs|HINFP_uc001pvr.3_Frame_Shift_Del_p.P243fs	NM_015517	NP_945322	Q9BQA5	HINFP_HUMAN	Homo sapiens histone H4 transcription factor (HINFP), transcript variant 1, mRNA.	490	Interaction with NPAT.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CAGGGGAGCCTCCCCCAGCCC	0.567											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
JAM3	83700	broad.mit.edu	37	11	134018468	134018468	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr11:134018467_134018467TG>T	uc001qhb.2	+	6	897	c.873_873TG>T	c.(871-873)attfs	p.I291fs	JAM3_uc009zcz.2_Frame_Shift_Del_p.I195fs	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	Homo sapiens junctional adhesion molecule 3 (JAM3), transcript variant 1, mRNA.	246					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GCGGAATTATTGGGGGGGTTC	0.488												
TULP3	7289	broad.mit.edu	37	12	3040387	3040387	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:3040386_3040386GA>G	uc001qlj.2	+	5	757	c.676_676GA>G	c.(676-678)gaafs	p.E226fs	TULP3_uc010sef.1_Non-coding_Transcript|TULP3_uc009zec.1_5'UTR|TULP3_uc010seh.1_Frame_Shift_Del_p.E226fs|TULP3_uc010sei.1_Frame_Shift_Del_p.E83fs	NM_001160408	NP_001153880	O75386	TULP3_HUMAN	Homo sapiens tubby like protein 3 (TULP3), transcript variant 2, mRNA.	226				PTYYMYLE -> SHLLYVLG (in Ref. 1; AAC95431).	G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TATGTACTTGGAAAAAGAAGA	0.423												
NTF3	4908	broad.mit.edu	37	12	5604116	5604117	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:5604115_5604116CTG>C	uc001qnl.4	+	0	818_819	c.735_736CTG>C	c.(733-738)tcctgtfs	p.S245fs	NTF3_uc001qnk.4_Frame_Shift_Del_p.S258fs	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	245					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TAGACACGTCCTGTGTGTGTGC	0.421												
VWF	7450	broad.mit.edu	37	12	6153464	6153464	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:6153463_6153463CG>C	uc001qnn.1	-	17	2686	c.2436_2436CG>G	c.(2434-2436)ccgfs	p.P812fs	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	812	E1.|TIL 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACCATGCCCGGGGGGCAGA	0.592												
ITPR2	3709	broad.mit.edu	37	12	26568292	26568292	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:26568291_26568291CA>C	uc001rhg.3	-	50	7668	c.7251_7251TG>G	c.(7249-7251)ttgfs	p.L2417fs	ITPR2_uc009zjg.1_Frame_Shift_Del_p.L568fs	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2417					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGTCATCCTTCAAAAAAAGGA	0.408												
MLL2	8085	broad.mit.edu	37	12	49434492	49434492	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:49434491_49434491AG>A	uc001rta.4	-	30	7062	c.7062_7062CT>T	c.(7060-7062)cctfs	p.P2354fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2354	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AAGCCTGGGCAGGGGGTGGCT	0.627			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
GPR84	53831	broad.mit.edu	37	12	54757553	54757553	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:54757552_54757552CA>C	uc021qyp.1	-	0	84	c.84_84TG>G	c.(82-84)gtgfs	p.V28fs	GPR84_uc001sfu.3_Frame_Shift_Del_p.V28fs	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA.	28						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V28G(1)		NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CAGCCACCACCACCCCCCAGC	0.567												
MBD6	114785	broad.mit.edu	37	12	57919295	57919296	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:57919294_57919295T>TG	uc001soj.1	+	5	767_768	c.543_544T>TG	c.(541-546)cctgggfs	p.P181fs	MBD6_uc001sok.1_Frame_Shift_Ins_p.P48fs|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	181	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TAGCAGGCCCTGGGGGGCTTTT	0.639												
MBD6	114785	broad.mit.edu	37	12	57921401	57921401	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:57921400_57921400AC>A	uc001soj.1	+	7	2417	c.2193_2193AC>A	c.(2191-2193)agafs	p.R731fs	MBD6_uc001sok.1_Frame_Shift_Del_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	731	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACTCAGGGAGACCCCCCCAAC	0.602												
LRRC43	254050	broad.mit.edu	37	12	122685346	122685346	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:122685345_122685345AC>A	uc009zxm.3	+	9	1698	c.1673_1673AC>A	c.(1672-1674)gacfs	p.D558fs	LRRC43_uc001ubw.4_Frame_Shift_Del_p.D373fs|LRRC43_uc009zxn.3_Frame_Shift_Del_p.D319fs|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	558										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCCGGCAGGACCCCCCCATC	0.667												
CCDC92	80212	broad.mit.edu	37	12	124421800	124421800	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:124421799_124421799TG>T	uc001ufw.1	-	4	949	c.802_802CA>A	c.(802-804)atcfs	p.I268fs	CCDC92_uc001ufv.1_Frame_Shift_Del_p.I251fs|CCDC92_uc001ufx.1_Frame_Shift_Del_p.I268fs	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	268										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TCGGAGGCGATGGGGGGGATG	0.682												
DDX51	317781	broad.mit.edu	37	12	132624668	132624669	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr12:132624667_132624668T>TG	uc001ujy.4	-	11	1789_1790	c.1750_1751A>CA	c.(1750-1752)cagfs	p.Q584fs		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	584	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TCTCAGGTACTGGGGGGCGTCG	0.663												
LATS2	26524	broad.mit.edu	37	13	21563349	21563349	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:21563348_21563348AG>A	uc009zzs.3	-	3	936	c.571_571CT>T	c.(571-573)tacfs	p.Y191fs	LATS2_uc001unr.4_Frame_Shift_Del_p.Y191fs	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	191					G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGGCCCTCGTAGGGGGTACCG	0.682												
ATP12A	479	broad.mit.edu	37	13	25262564	25262564	+	Frame_Shift_Del	DEL	G	G	-	rs35191129		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:25262563_25262563TG>T	uc010aaa.3	+	3	668	c.335_335TG>T	c.(334-336)gtgfs	p.V112fs	ATP12A_uc001upp.3_Frame_Shift_Del_p.V112fs	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	112					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAGCAGATGGTGGGGGGGTTC	0.587												
ATP8A2	51761	broad.mit.edu	37	13	26436484	26436484	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:26436483_26436483GT>G	uc001uqk.3	+	32	3262	c.3120_3120GT>G	c.(3118-3120)gtgfs	p.V1040fs	ATP8A2_uc010tdi.2_Frame_Shift_Del_p.V975fs|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Frame_Shift_Del_p.V590fs	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	1000					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CCTGGCTGGTGTTTTTTGGCA	0.522												
SPG20	23111	broad.mit.edu	37	13	36909272	36909272	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:36909271_36909271CA>C	uc001uvn.3	-	2	967	c.697_697TG>G	c.(697-699)gtafs	p.V233fs	SPG20_uc010ten.2_Frame_Shift_Del_p.V233fs|SPG20_uc001uvm.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvo.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvq.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvp.2_Frame_Shift_Del_p.V233fs	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	233					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GCAGGATTTACAAAAAAAATC	0.438												
DACH1	1602	broad.mit.edu	37	13	72204775	72204776	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr13:72204774_72204775A>AT	uc021rkj.1	-	2	1468_1469	c.1045_1046T>AT	c.(1045-1047)atcfs	p.I349fs	DACH1_uc021rkk.1_Frame_Shift_Ins_p.I349fs|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	347	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTCTAATTTGATTTTTTTCACC	0.411												
FANCM	57697	broad.mit.edu	37	14	45636290	45636291	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:45636289_45636290TCA>T	uc001wwd.4	+	10	2024_2025	c.1925_1926TCA>T	c.(1924-1926)atcfs	p.I642fs	FANCM_uc001wwc.2_Frame_Shift_Del_p.I642fs|FANCM_uc010anf.3_Frame_Shift_Del_p.I616fs|FANCM_uc001wwe.4_Frame_Shift_Del_p.I178fs	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	642					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAAATGTTCATCACACATGGTG	0.381								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
FBXO34	55030	broad.mit.edu	37	14	55819058	55819058	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:55819057_55819057AC>A	uc021rtk.1	+	0	1949	c.1949_1949AC>A	c.(1948-1950)cacfs	p.H650fs	FBXO34_uc001xbv.3_Non-coding_Transcript|FBXO34_uc001xbu.3_Frame_Shift_Del_p.H650fs|FBXO34_uc010aoo.3_Frame_Shift_Del_p.H650fs	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	650										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TGCCGATGGCACCCCAAGCCC	0.542												
DHRS7	51635	broad.mit.edu	37	14	60622739	60622740	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:60622738_60622739C>CT	uc001xes.3	-	1	449_450	c.265_266G>AG	c.(265-267)aggfs	p.R89fs	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.3_Frame_Shift_Ins_p.R39fs	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7 (DHRS7), mRNA.	89							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TCTTTTCACCCTTTCCAGCTCA	0.460												
SNAPC1	6617	broad.mit.edu	37	14	62242911	62242912	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:62242910_62242911A>AT	uc001xft.3	+	4	736_737	c.632_633A>AT	c.(631-633)gatfs	p.D211fs		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 1, 43kDa (SNAPC1), mRNA.	211	SNAPC4-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.D214fs*1(2)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		ATAAAGGATGATTTTTTTGACA	0.356												
MLH3	27030	broad.mit.edu	37	14	75515058	75515058	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:75515057_75515057AT>A	uc001xrd.1	-	1	1518	c.1302_1302AT>T	c.(1300-1302)aatfs	p.N434fs	MLH3_uc001xre.1_Frame_Shift_Del_p.N434fs|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	434					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CATCATTTGTATTTTTTCTGG	0.363								Mismatch excision repair (MMR)				
ZC3H14	79882	broad.mit.edu	37	14	89044473	89044473	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr14:89044472_89044472GA>G	uc001xww.3	+	8	1492	c.1267_1267GA>G	c.(1267-1269)gaafs	p.E423fs	ZC3H14_uc010twd.2_Frame_Shift_Del_p.E423fs|ZC3H14_uc010twe.2_Frame_Shift_Del_p.E423fs|ZC3H14_uc001xwx.3_Frame_Shift_Del_p.E423fs|ZC3H14_uc010twf.2_Frame_Shift_Del_p.E268fs|ZC3H14_uc001xwy.3_Frame_Shift_Del_p.E389fs|ZC3H14_uc010twg.2_Frame_Shift_Del_p.E268fs|ZC3H14_uc001xxa.3_5'UTR	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	423						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						AGATTCTGTAGAAAAAAATCA	0.343												
ATP10A	57194	broad.mit.edu	37	15	25953420	25953420	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:25953419_25953419CT>C	uc010ayu.3	-	10	2479	c.2373_2373AG>G	c.(2371-2373)aagfs	p.K791fs		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	791					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGCTCCGAATCTTTTTTTGAT	0.532												
C15orf52	388115	broad.mit.edu	37	15	40631782	40631782	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:40631781_40631781TC>T	uc001zlh.4	-	2	311	c.295_295GA>A	c.(295-297)atgfs	p.M99fs	C15orf52_uc001zli.1_5'UTR|C15orf52_uc010ucn.2_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	99								p.M99fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GTCACAGCCATCCCCCCCTGC	0.647												
B2M	567	broad.mit.edu	37	15	45007834	45007835	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:45007833_45007834G>GA	uc001zuc.3	+	1	340_341	c.280_281G>GA	c.(280-282)gaafs	p.E94fs	B2M_uc010uek.1_Frame_Shift_Ins_p.E94fs|B2M_uc010bdx.1_Intron	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	94	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.E94K(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		CACCCCCACTGAAAAAGATGAG	0.421												
USP8	9101	broad.mit.edu	37	15	50763892	50763893	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:50763891_50763892A>AG	uc001zym.4	+	8	1248_1249	c.748_749A>AG	c.(748-750)aggfs	p.R250fs	USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.4_Frame_Shift_Ins_p.R250fs|USP8_uc001zyn.4_Frame_Shift_Ins_p.R250fs|USP8_uc010ufh.2_Frame_Shift_Ins_p.R173fs|USP8_uc010bev.1_Intron	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	250	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATGGAAGAAGAGGGGGAATGTG	0.406												
PIGB	9488	broad.mit.edu	37	15	55621922	55621922	+	Splice_Site	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:55621921_55621921GT>G	uc002act.3	+	5	839	c.523_splice	c.e5-1	p.F175_splice	PIGB_uc010ugg.2_Splice_Site	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	175					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTTTTTCTTAGTTTTTTTGCC	0.343												
PRTG	283659	broad.mit.edu	37	15	55912361	55912362	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:55912360_55912361G>GA	uc002adg.3	-	19	3350_3351	c.3302_3303C>TC	c.(3301-3303)ttcfs	p.F1101fs		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	1101					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGGGTCTTGAGAAGCTGGTTGT	0.495												
FBXL22	283807	broad.mit.edu	37	15	63889658	63889658	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:63889657_63889657CT>C	uc002amn.3	+	0	106	c.48_48CT>C	c.(46-48)tccfs	p.S16fs	LOC100130855_uc002amk.3_Intron|LOC100130855_uc002amj.3_Intron|FBXL22_uc002amm.2_Frame_Shift_Del_p.S16fs	NM_203373	NP_976307	Q6P050	FXL22_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 22 (FBXL22), mRNA.	16	F-box.									lung(4)	4						ACCTCTTCTCCTTCCTAGACA	0.617												
CSNK1G1	53944	broad.mit.edu	37	15	64506165	64506166	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:64506164_64506165G>GT	uc002anf.3	-	5	1083_1084	c.603_604C>AC	c.(601-606)aaacacfs	p.K201fs	CSNK1G1_uc002ane.3_Non-coding_Transcript|CSNK1G1_uc002ang.1_Frame_Shift_Ins_p.K201fs|CSNK1G1_uc002anh.1_Frame_Shift_Ins_p.K201fs|CSNK1G1_uc002anj.3_Frame_Shift_Ins_p.K183fs	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	Homo sapiens casein kinase 1, gamma 1 (CSNK1G1), mRNA.	201	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TAAGGTATGTGTTTTTTGGTTT	0.381												
IQCH	64799	broad.mit.edu	37	15	67681234	67681234	+	Frame_Shift_Del	DEL	A	A	-	rs138548169	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:67681233_67681233CA>C	uc002aqo.2	+	11	1618	c.1521_1521CA>C	c.(1519-1521)tacfs	p.Y507fs	IQCH_uc002aqp.2_Frame_Shift_Del_p.Y259fs|IQCH_uc002aqq.2_Frame_Shift_Del_p.Y255fs	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	507										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TGCTGTATTACAAAAAAATCC	0.408												
UACA	55075	broad.mit.edu	37	15	70961076	70961076	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:70961075_70961075AT>A	uc002asr.3	-	15	2052	c.1948_1948AT>T	c.(1948-1950)ttafs	p.L650fs	UACA_uc010uke.2_Frame_Shift_Del_p.L541fs|UACA_uc002asq.3_Frame_Shift_Del_p.L637fs|UACA_uc010bin.1_Frame_Shift_Del_p.L625fs	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	650						cytoskeleton|extracellular region		p.E650D(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTTCTACTAATTTTTTTGCT	0.348												
TTC23	64927	broad.mit.edu	37	15	99740304	99740304	+	Splice_Site	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr15:99740303_99740303TA>T	uc002bur.3	-	8	1113	c.582_splice	c.e8-1	p.Q194_splice	TTC23_uc002bus.3_Splice_Site_p.Q194_splice|TTC23_uc002but.3_Splice_Site_p.Q194_splice|TTC23_uc002buu.3_Splice_Site_p.Q194_splice|TTC23_uc002buv.3_Splice_Site_p.Q194_splice|TTC23_uc002bux.3_Splice_Site_p.Q194_splice|TTC23_uc002buw.3_Splice_Site_p.Q194_splice|TTC23_uc010boq.3_Splice_Site|TTC23_uc002buy.3_Splice_Site_p.Q194_splice|TTC23_uc010bor.3_Splice_Site_p.Q194_splice|TTC23_uc002buz.2_Splice_Site_p.Q194_splice	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA.	194							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TGATACACCCTAAAAAAATCA	0.348												
WDR90	197335	broad.mit.edu	37	16	716929	716929	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:716928_716928CT>C	uc002cii.1	+	39	5082	c.5028_5028CT>C	c.(5026-5028)cccfs	p.P1676fs	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cin.1_Frame_Shift_Del_p.P291fs|WDR90_uc002cio.1_Frame_Shift_Del_p.P275fs|WDR90_uc010bqx.1_Frame_Shift_Del_p.P227fs|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1676										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TACCACTGCCCTTTTTTGCCA	0.632												
MAPK8IP3	23162	broad.mit.edu	37	16	1793366	1793366	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:1793365_1793365TC>T	uc010uvl.2	+	4	755	c.635_635TC>T	c.(634-636)ttcfs	p.F212fs	MAPK8IP3_uc002cmi.1_Frame_Shift_Del_p.F211fs|MAPK8IP3_uc002cmj.1_Non-coding_Transcript|MAPK8IP3_uc002cmk.3_Frame_Shift_Del_p.F211fs|MAPK8IP3_uc002cml.3_Frame_Shift_Del_p.F211fs|MAPK8IP3_uc021tah.1_Frame_Shift_Del_p.F211fs	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	211					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CTGAACGTGTTCCCCCTGGCT	0.652												
TIGD7	91151	broad.mit.edu	37	16	3350472	3350473	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:3350471_3350472A>AT	uc021tcc.1	-	0	143_144	c.143_144T>AT	c.(142-144)aatfs	p.N48fs	ZNF263_uc002cur.2_3'UTR|TIGD7_uc002cus.3_Frame_Shift_Ins_p.N48fs	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	Homo sapiens tigger transposable element derived 7 (TIGD7), mRNA.	48	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TTAACTTCTTATTTTTTTTAAT	0.361												
ANKS3	124401	broad.mit.edu	37	16	4747358	4747359	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:4747357_4747358A>AG	uc002cxj.2	-	15	2165_2166	c.1870_1871T>CT	c.(1870-1872)ctgfs	p.L624fs	ANKS3_uc010uxr.2_Frame_Shift_Ins_p.L147fs|ANKS3_uc002cxh.2_Non-coding_Transcript|ANKS3_uc002cxi.2_Frame_Shift_Ins_p.L551fs|ANKS3_uc021tcj.1_Frame_Shift_Ins_p.L495fs|ANKS3_uc021tck.1_Frame_Shift_Ins_p.L517fs|ANKS3_uc002cxk.3_Frame_Shift_Ins_p.L495fs|ANKS3_uc010uxs.2_Frame_Shift_Ins_p.L551fs	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	624										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						ACGGTCCTCCAGGGCTCCCGAG	0.644												
TMC5	79838	broad.mit.edu	37	16	19452015	19452016	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:19452014_19452015C>CT	uc002dgc.4	+	2	1403_1404	c.654_655C>CT	c.(652-657)ccctttfs	p.P218fs	TMC5_uc010vaq.2_Frame_Shift_Ins_p.P218fs|TMC5_uc002dgb.4_Frame_Shift_Ins_p.P218fs|TMC5_uc010var.2_Frame_Shift_Ins_p.P218fs	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	218						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACTCTCCACCCTTTTTTGGGGA	0.446												
GTF3C1	2975	broad.mit.edu	37	16	27475972	27475972	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:27475971_27475971CG>C	uc002dov.2	-	33	5582	c.5542_5542CG>G	c.(5542-5544)gagfs	p.E1848fs	GTF3C1_uc002dou.3_Frame_Shift_Del_p.E1848fs	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1848						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCTGCCCCTCGGGGGGGCTG	0.677												
ATXN2L	11273	broad.mit.edu	37	16	28838262	28838262	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:28838261_28838261AG>A	uc002dqy.3	+	5	862	c.695_695AG>A	c.(694-696)gagfs	p.E232fs	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Frame_Shift_Del_p.E232fs|ATXN2L_uc002dqz.3_Frame_Shift_Del_p.E232fs|ATXN2L_uc002dra.3_Frame_Shift_Del_p.E232fs|ATXN2L_uc002drb.3_Frame_Shift_Del_p.E232fs|ATXN2L_uc002drc.3_Frame_Shift_Del_p.E232fs|ATXN2L_uc010vdb.2_Frame_Shift_Del_p.E232fs|ATXN2L_uc002dre.3_Frame_Shift_Del_p.E232fs|ATXN2L_uc002drf.3_Intron	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	232						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CAGCGCTGGGAGGGGGGTGAC	0.532												
PHKG2	5261	broad.mit.edu	37	16	30768017	30768017	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:30768016_30768016AC>A	uc002dzk.2	+	8	1117	c.907_907AC>A	c.(907-909)accfs	p.T303fs	PHKG2_uc021tgo.1_Frame_Shift_Del_p.T303fs	NM_000294	NP_000285	P15735	PHKG2_HUMAN	Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA.	303					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			CTGGAACCTCACCCCCCGCCA	0.627												
NOD2	64127	broad.mit.edu	37	16	50745331	50745331	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:50745330_50745330AG>A	uc002egm.1	+	3	1613	c.1508_1508AG>A	c.(1507-1509)gagfs	p.E503fs	NOD2_uc021tia.1_Frame_Shift_Del_p.E335fs|NOD2_uc010cbk.1_Frame_Shift_Del_p.E476fs|NOD2_uc002egl.1_Frame_Shift_Del_p.E281fs|NOD2_uc010cbl.1_Frame_Shift_Del_p.E281fs|NOD2_uc010cbm.1_Frame_Shift_Del_p.E281fs|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	503	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TTGCTGCAGGAGGGGGGGTCC	0.572												
PLCG2	5336	broad.mit.edu	37	16	81942125	81942126	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:81942124_81942125C>CG	uc002fgt.3	+	16	1839_1840	c.1661_1662C>CG	c.(1660-1662)acgfs	p.T554fs	PLCG2_uc010chg.1_Frame_Shift_Ins_p.T554fs	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	554	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGCATGGAGACGGGGGGCAAGG	0.559												
MLYCD	23417	broad.mit.edu	37	16	83941844	83941844	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:83941843_83941843GT>G	uc002fgz.3	+	2	774	c.754_754GT>G	c.(754-756)gttfs	p.V252fs		NM_012213	NP_036345	O95822	DCMC_HUMAN	Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA.	252					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GCCCCTGGTCGTTTTGCACGT	0.547												
ZDHHC7	55625	broad.mit.edu	37	16	85010045	85010045	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:85010044_85010044GC>G	uc010voi.1	-	8	1296	c.943_943GC>C	c.(943-945)cccfs	p.P315fs	ZDHHC7_uc002fiq.2_Frame_Shift_Del_p.P278fs|ZDHHC7_uc002fir.1_Non-coding_Transcript	NM_001145548	NP_001139020	Q9NXF8	ZDHC7_HUMAN	Homo sapiens zinc finger, DHHC-type containing 7 (ZDHHC7), transcript variant 1, mRNA.	278						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						AGTGAGGGGGGCCCCCCAAAG	0.572												
ZCCHC14	23174	broad.mit.edu	37	16	87453429	87453429	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr16:87453428_87453428GA>G	uc002fjz.1	-	5	622	c.595_595TC>C	c.(595-597)ctcfs	p.L199fs	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_5'UTR	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	199					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GAAGTGCTGAGAAACCTCCTG	0.403												
GEMIN4	50628	broad.mit.edu	37	17	651080	651082	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:651079_651081TTTC>T	uc002frs.1	-	1	321_323	c.202_204GAAA>A	c.(202-204)aaa>A	p.K68del	GEMIN4_uc010vqa.1_In_Frame_Del_p.K68del	NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	68					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGATCAGGGCTTTCTTCTTCCAG	0.596												
SCARF1	8578	broad.mit.edu	37	17	1538678	1538678	+	Frame_Shift_Del	DEL	C	C	-	rs34681910		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:1538677_1538677GC>G	uc002fsz.1	-	10	1918	c.1868_1868GC>C	c.(1867-1869)gcgfs	p.A623fs	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Frame_Shift_Del_p.A537fs	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	623	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACCCGACTGCGCCCCCCGGGA	0.667												
ITGAE	3682	broad.mit.edu	37	17	3655036	3655036	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:3655035_3655035AG>A	uc002fwo.4	-	14	1901	c.1802_1802CT>T	c.(1801-1803)ctgfs	p.L601fs		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	601					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AAAACCTTCCAGGGGGGCCCC	0.612												
GP1BA	2811	broad.mit.edu	37	17	4837373	4837373	+	RNA	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:4837372_4837372CA>C	uc021toc.1	-	0		c.485_485TG>G			GP1BA_uc021tnz.1_Frame_Shift_Del_p.T491fs|GP1BA_uc021toa.1_5'Flank|GP1BA_uc021tob.1_Frame_Shift_Del_p.T491fs			E7ES66	E7ES66_HUMAN	Synthetic construct clone IMAGE:100003573; FLH167768.01X; RZPDo839F0190D glycoprotein Ib (platelet), alpha polypeptide (GP1BA) gene, encodes complete protein.											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TAGAATCCACCAAAAAAACCA	0.502												
CHD3	1107	broad.mit.edu	37	17	7798765	7798765	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:7798764_7798764AC>A	uc002gjd.2	+	9	1790	c.1788_1788AC>A	c.(1786-1788)ccafs	p.P596fs	CHD3_uc002gje.2_Frame_Shift_Del_p.P537fs|CHD3_uc002gjf.2_Frame_Shift_Del_p.P537fs|CHD3_uc002gjg.1_Frame_Shift_Del_p.P365fs	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	537					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGATGTCCCACCCCCCCGTC	0.577												
ARHGEF15	22899	broad.mit.edu	37	17	8224298	8224299	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:8224297_8224298G>GC	uc002glc.3	+	15	2667_2668	c.2512_2513G>GC	c.(2512-2514)gccfs	p.A838fs	ARHGEF15_uc002gld.3_Frame_Shift_Ins_p.A838fs|ARHGEF15_uc010vuw.2_Frame_Shift_Ins_p.A727fs	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	838					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCCCCAATGCCCCCCCACCC	0.574												
NT5M	56953	broad.mit.edu	37	17	17250190	17250191	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:17250189_17250190G>GC	uc002grf.3	+	4	800_801	c.615_616G>GC	c.(613-618)cagcccfs	p.Q205fs	NT5M_uc002grg.3_Frame_Shift_Ins_p.Q211fs	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	Homo sapiens 5',3'-nucleotidase, mitochondrial (NT5M), nuclear gene encoding mitochondrial protein, mRNA.	205					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding	p.L204P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TGCAGCTGCAGCCCCCCCGCCG	0.673												
FOXN1	8456	broad.mit.edu	37	17	26851000	26851000	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:26850999_26850999AC>A	uc010crm.3	+	1	210	c.12_12AC>A	c.(10-12)ctafs	p.L4fs	FOXN1_uc002hbj.3_Frame_Shift_Del_p.L4fs	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	4					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TGGTGTCGCTACCCCCGCCGC	0.677												
SLFN12	55106	broad.mit.edu	37	17	33749493	33749494	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:33749492_33749493C>CA	uc002hji.4	-	1	932_933	c.555_556G>TG	c.(553-558)tttgatfs	p.F185fs	SLFN12_uc002hjj.4_Frame_Shift_Ins_p.F185fs|SLFN12_uc010cts.3_Frame_Shift_Ins_p.F185fs	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	185							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTGTTCTATCAAAAAAAACCC	0.366												
KRT23	25984	broad.mit.edu	37	17	39092692	39092693	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:39092691_39092692A>AG	uc002hvm.1	-	1	753_754	c.164_165T>CT	c.(163-165)cctfs	p.P55fs	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Frame_Shift_Ins_p.P55fs|KRT23_uc002hvn.1_Frame_Shift_Ins_p.P55fs	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	55	Head.					intermediate filament	structural molecule activity	p.P54L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				AAGACCCTCCAGGGGGTGGGCA	0.673												
FKBP10	60681	broad.mit.edu	37	17	39975559	39975560	+	Frame_Shift_Ins	INS	-	-	C	rs137853883		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:39975558_39975559T>TC	uc002hxv.2	+	4	1149_1150	c.824_825T>TC	c.(823-825)ctcfs	p.L275fs	FKBP10_uc002hxw.1_5'UTR	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	275					protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ACGCTGGAGCTCCCCCCCGGCT	0.634												
STAT5B	6777	broad.mit.edu	37	17	40370236	40370237	+	Frame_Shift_Ins	INS	-	-	G	rs144993426		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:40370235_40370236T>TG	uc002hzh.3	-	8	1271_1272	c.1102_1103A>CA	c.(1102-1104)cagfs	p.Q368fs	STAT5B_uc002hzi.3_Frame_Shift_Ins_p.Q368fs	NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	368					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GGCCTTCACCTGGGGGGGGTTC	0.574												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597												
MED13	9969	broad.mit.edu	37	17	60111269	60111269	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:60111268_60111268AT>A	uc002izo.3	-	4	771	c.694_694AT>T	c.(694-696)ttafs	p.L232fs	Y_RNA_uc021ubc.1_5'Flank	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	232					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCACCAATTAATTTTTTTGTA	0.383												
METTL2A	339175	broad.mit.edu	37	17	60522298	60522299	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:60522297_60522298T>TA	uc002izv.2	+	6	927_928	c.909_910T>TA	c.(907-912)tttaaafs	p.F303fs	METTL2A_uc002izw.3_Frame_Shift_Ins_p.F167fs	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	Homo sapiens methyltransferase like 2A (METTL2A), mRNA.	303							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			AGCTTCGGTTTAAAAAAGGTAT	0.465												
ABCA6	23460	broad.mit.edu	37	17	67125767	67125767	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:67125766_67125766TA>T	uc002jhw.1	-	6	1093	c.918_918TA>A	c.(916-918)ttafs	p.L306fs		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	306					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATAAGCCATATAAAAAAAAGA	0.303												
FOXJ1	2302	broad.mit.edu	37	17	74133833	74133834	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr17:74133832_74133833T>TG	uc002jqx.3	-	2	1222_1223	c.867_868A>CA	c.(865-870)cccagcfs	p.P289fs	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	289					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			AGCAGGGTGCTGGGGGGCCGCG	0.713												
L3MBTL4	91133	broad.mit.edu	37	18	6241451	6241451	+	Splice_Site	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:6241450_6241450TA>T	uc002kmz.4	-	8	621	c.461_splice	c.e8-1	p.G154_splice	L3MBTL4_uc002kmy.4_Splice_Site_p.G154_splice|L3MBTL4_uc010dkt.3_Splice_Site_p.G154_splice	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	154					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTCTATAACCTAAAAAAAGCA	0.323												
ZBTB7C	201501	broad.mit.edu	37	18	45567076	45567077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:45567075_45567076T>TC	uc010dnv.3	-	2	905_906	c.469_470A>GA	c.(469-471)gagfs	p.E157fs	ZBTB7C_uc002ldb.3_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010dnu.3_Frame_Shift_Ins_p.E144fs|ZBTB7C_uc010dnw.3_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010dnx.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010dny.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010dnz.1_Frame_Shift_Ins_p.E157fs|ZBTB7C_uc010doi.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010doj.1_Frame_Shift_Ins_p.E144fs|ZBTB7C_uc010dok.1_Frame_Shift_Ins_p.E184fs|ZBTB7C_uc010dol.1_Frame_Shift_Ins_p.E144fs|ZBTB7C_uc010doa.1_Frame_Shift_Ins_p.E157fs|ZBTB7C_uc010dob.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010doc.1_Frame_Shift_Ins_p.E144fs|ZBTB7C_uc010dod.1_Frame_Shift_Ins_p.E157fs|ZBTB7C_uc010doe.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010dof.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010dog.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010doh.1_Frame_Shift_Ins_p.E144fs|ZBTB7C_uc010dom.1_Frame_Shift_Ins_p.E144fs|ZBTB7C_uc010don.1_Frame_Shift_Ins_p.E143fs|ZBTB7C_uc010dop.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010doq.1_Frame_Shift_Ins_p.E144fs|ZBTB7C_uc010dor.1_Frame_Shift_Ins_p.E157fs|ZBTB7C_uc010dos.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010dot.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010doo.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_uc010dou.1_Frame_Shift_Ins_p.E144fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	135	Asp-rich.|Glu-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						gtcatcctcctcccccccgtcc	0.574												
SERPINB12	89777	broad.mit.edu	37	18	61228376	61228376	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:61228375_61228375CA>C	uc010xeo.2	+	3	502	c.502_502CA>C	c.(502-504)caafs	p.Q168fs	SERPINB12_uc010xen.2_Frame_Shift_Del_p.Q148fs	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	148					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.Q167K(1)|p.G168G(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TGTTGATTTCCAAAAAAACCC	0.388												
ADNP2	22850	broad.mit.edu	37	18	77894261	77894261	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr18:77894260_77894260TC>T	uc002lnw.3	+	3	1419	c.964_964TC>T	c.(964-966)tccfs	p.S322fs		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	322	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A325fs*59(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCTCACTCATTCCCCCCCTGC	0.642												
BTBD2	55643	broad.mit.edu	37	19	1986508	1986508	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:1986507_1986507CG>C	uc002lup.1	-	8	1558	c.1558_1558CG>G	c.(1558-1560)gagfs	p.E520fs	BTBD2_uc002luo.1_Frame_Shift_Del_p.E199fs	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	Homo sapiens BTB (POZ) domain containing 2 (BTBD2), mRNA.	520						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGATGACCTCGGGGATCTGG	0.662												
MATK	4145	broad.mit.edu	37	19	3778509	3778509	+	Splice_Site	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:3778508_3778508AT>A	uc002lyt.3	-	13	1684	c.1284_splice	c.e13+1	p.M428_splice	MATK_uc002lyv.3_Splice_Site_p.M429_splice|MATK_uc002lyu.3_Splice_Site_p.M387_splice|MATK_uc010dtq.3_Splice_Site_p.M427_splice	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	428	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGCTCACCATTTTAGGGTA	0.627												
SIRT6	51548	broad.mit.edu	37	19	4180893	4180893	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:4180892_4180892CG>C	uc002lzo.3	-	1	141	c.81_81CG>G	c.(79-81)ccgfs	p.P27fs	ANKRD24_uc010dtt.1_5'Flank|SIRT6_uc002lzq.3_Frame_Shift_Del_p.P27fs|SIRT6_uc002lzp.3_Frame_Shift_Del_p.P27fs|SIRT6_uc010xid.2_Intron|SIRT6_uc002lzr.3_Intron	NM_016539	NP_057623	Q8N6T7	SIRT6_HUMAN	Homo sapiens sirtuin 6 (SIRT6), transcript variant 1, mRNA.	27					chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCTCCTCCGGGGGGTCGA	0.637												
TIMM44	10469	broad.mit.edu	37	19	8002975	8002975	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:8002974_8002974AT>A	uc002miz.3	-	2	422	c.250_250AT>T	c.(250-252)ttcfs	p.F84fs	TIMM44_uc010dvx.2_Non-coding_Transcript	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	84					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TCGTCACGGAATTTTTTTATA	0.413												
ZNF878	729747	broad.mit.edu	37	19	12155504	12155504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:12155503_12155503GA>G	uc021upl.1	-	3	879	c.713_713TC>C	c.(712-714)tctfs	p.S238fs	ZNF878_uc002mta.1_Frame_Shift_Del_p.S285fs	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CGAACTGGGAGAAAAAAAGGC	0.393												
CC2D1A	54862	broad.mit.edu	37	19	14038730	14038730	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:14038729_14038729AG>A	uc002mxo.2	+	22	2639	c.2340_2340AG>A	c.(2338-2340)acafs	p.T780fs	CC2D1A_uc002mxp.2_Frame_Shift_Del_p.T780fs|CC2D1A_uc010dzh.2_Frame_Shift_Del_p.T349fs	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	780					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCCGGCCCACAGGGGGGCGAC	0.627												
MLL2	8085	broad.mit.edu	37	19	36210764	36210765	+	Frame_Shift_Ins	INS	-	-	C	rs60207923	by1000genomes	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36210763_36210764A>AC	uc021usv.1	+	2	514_515	c.514_515A>AC	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAAG	0.634			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
ARHGAP33	115703	broad.mit.edu	37	19	36268610	36268611	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36268609_36268610T>TG	uc002obs.2	+	1	213_214	c.69_70T>TG	c.(67-72)gctgggfs	p.A23fs	ARHGAP33_uc002obr.2_Frame_Shift_Ins_p.A23fs|ARHGAP33_uc002obt.2_Intron|ARHGAP33_uc010eek.2_Frame_Shift_Ins_p.A41fs	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	23					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TACCCACTGCTGGGGGGCCCAG	0.639												
KIRREL2	84063	broad.mit.edu	37	19	36357214	36357214	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:36357213_36357213TC>T	uc002ocb.4	+	14	2158	c.1946_1946TC>T	c.(1945-1947)gtcfs	p.V649fs	KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Frame_Shift_Del_p.V611fs|APLP1_uc010xsz.2_5'Flank|APLP1_uc002oce.3_5'Flank|APLP1_uc002ocf.3_5'Flank|APLP1_uc002ocg.3_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	649	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGGCATGGTCCCCCCCTGC	0.627												
ZNF382	84911	broad.mit.edu	37	19	37118176	37118176	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:37118175_37118175CG>C	uc002oek.3	+	4	1489	c.1376_1376CG>C	c.(1375-1377)acgfs	p.T459fs	ZNF382_uc010efa.3_Frame_Shift_Del_p.T410fs|ZNF382_uc010efb.3_Frame_Shift_Del_p.T458fs|ZNF382_uc002oel.3_Frame_Shift_Del_p.T458fs	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	459	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T459T(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAATTCACACGGGGGAAAAA	0.438												
ZFP36	7538	broad.mit.edu	37	19	39899071	39899071	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:39899070_39899070AC>A	uc002olh.1	+	1	770	c.712_712AC>A	c.(712-714)accfs	p.T238fs		NM_003407	NP_003398	P26651	TTP_HUMAN	Homo sapiens zinc finger protein 36, C3H type, homolog (mouse) (ZFP36), mRNA.	238					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGCCCCTGGCACCCCCCTGGC	0.682												
FBL	2091	broad.mit.edu	37	19	40325193	40325193	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:40325192_40325192TG>T	uc002omn.3	-	8	1066	c.952_952CA>A	c.(952-954)aagfs	p.K318fs	DYRK1B_uc002omi.3_5'Flank|DYRK1B_uc002omj.3_5'Flank|DYRK1B_uc002omk.3_5'Flank|DYRK1B_uc002oml.3_5'Flank|FBL_uc002omm.1_3'UTR	NM_001436	NP_001427	P22087	FBRL_HUMAN	Homo sapiens fibrillarin (FBL), mRNA.	318					rRNA processing|tRNA processing	Cajal body|box C/D snoRNP complex	RNA binding|methyltransferase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TTCTTCACCTTGGGGGGTGGC	0.507												
ZNF613	79898	broad.mit.edu	37	19	52447818	52447819	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:52447817_52447818T>TG	uc002pxz.2	+	5	1145_1146	c.681_682T>TG	c.(679-684)actgggfs	p.T227fs	ZNF613_uc002pya.2_Frame_Shift_Ins_p.T191fs	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GAGTTCACACTGGGGAGAAACC	0.475												
PPP1R12C	54776	broad.mit.edu	37	19	55607456	55607456	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:55607455_55607455TG>T	uc002qix.3	-	7	1133	c.1117_1117CA>A	c.(1117-1119)atcfs	p.I373fs	PPP1R12C_uc010yfs.2_Frame_Shift_Del_p.I299fs|PPP1R12C_uc002qiy.3_Frame_Shift_Del_p.I373fs|Mir_324_uc021vbr.1_5'Flank	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	373						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TCGTCCTGGATGGGGGGCCCC	0.642												
U2AF2	11338	broad.mit.edu	37	19	56171887	56171887	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:56171886_56171886TC>T	uc002qlu.3	+	3	1290	c.235_235TC>T	c.(235-237)tccfs	p.S79fs	U2AF2_uc002qlt.3_Frame_Shift_Del_p.S79fs	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	79					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCCCAGTCGTTCCCCCCGCCA	0.637												
EPN1	29924	broad.mit.edu	37	19	56203184	56203184	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr19:56203183_56203183TG>T	uc002qlw.3	+	6	1168	c.826_826TG>T	c.(826-828)tggfs	p.W276fs	EPN1_uc002qlv.3_Frame_Shift_Del_p.W251fs|EPN1_uc010etd.3_Frame_Shift_Del_p.W276fs|EPN1_uc002qlx.3_Frame_Shift_Del_p.W362fs	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	Homo sapiens epsin 1 (EPN1), transcript variant 2, mRNA.	276	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CACAGACCCCTGGGGGGGCCC	0.692												
RRBP1	6238	broad.mit.edu	37	20	17640808	17640809	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:17640807_17640808T>TG	uc002wpw.1	-	1	622_623	c.345_346A>CA	c.(343-348)cccattfs	p.P115fs	RRBP1_uc002wpu.3_5'Flank|RRBP1_uc010gcl.1_Intron|RRBP1_uc002wpv.1_Frame_Shift_Ins_p.P115fs|RRBP1_uc021waw.1_Frame_Shift_Ins_p.P115fs|RRBP1_uc010zrq.1_Frame_Shift_Ins_p.P115fs|RRBP1_uc010zrr.1_Frame_Shift_Ins_p.P115fs	NM_004587	NP_004578	Q9P2E9	RRBP1_HUMAN	Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA.	563					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GCAACGATAATGGGGGGCTGCA	0.564												
PAX1	5075	broad.mit.edu	37	20	21690007	21690007	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:21690006_21690006GC>G	uc002wsj.2	+	3	1260	c.1206_1206GC>G	c.(1204-1206)gcgfs	p.A402fs	PAX1_uc010zsl.2_Frame_Shift_Del_p.A402fs|PAX1_uc010zsm.2_Frame_Shift_Del_p.A378fs	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	402					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CTCCTCTGGCGCCCCCCGGGG	0.741												
FAM83C	128876	broad.mit.edu	37	20	33879731	33879731	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:33879730_33879730TG>T	uc021wck.1	-	0	496	c.378_378CA>A	c.(376-378)ccafs	p.P126fs	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	126										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGTCCAGGTCTGGGGGGTCTA	0.647												
TP53RK	112858	broad.mit.edu	37	20	45315634	45315634	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:45315633_45315633AG>A	uc002xsk.3	-	1	744	c.521_521CT>T	c.(520-522)ctgfs	p.L174fs	SLC13A3_uc002xsg.2_5'Flank|SLC13A3_uc010gho.2_5'Flank|TP53RK_uc002xsj.3_3'UTR	NM_033550	NP_291028	Q96S44	PRPK_HUMAN	Homo sapiens TP53 regulating kinase (TP53RK), mRNA.	174	Protein kinase.				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L174fs*23(2)		kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CAGCTGTTCCAGGGGGGGTTT	0.493												
ZMYND8	23613	broad.mit.edu	37	20	45875072	45875073	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr20:45875071_45875072C>CT	uc010zxy.1	-	13	2067_2068	c.1985_1986G>AG	c.(1984-1986)aagfs	p.K662fs	ZMYND8_uc010ghq.1_Frame_Shift_Ins_p.K312fs|ZMYND8_uc010ghr.1_Frame_Shift_Ins_p.K610fs|ZMYND8_uc002xst.1_Frame_Shift_Ins_p.K563fs|ZMYND8_uc002xsu.1_Frame_Shift_Ins_p.K635fs|ZMYND8_uc002xsv.1_Frame_Shift_Ins_p.K563fs|ZMYND8_uc002xsw.1_Frame_Shift_Ins_p.K387fs|ZMYND8_uc002xsx.1_Frame_Shift_Ins_p.K387fs|ZMYND8_uc002xsy.1_Frame_Shift_Ins_p.K610fs|ZMYND8_uc002xsz.1_Frame_Shift_Ins_p.K572fs|ZMYND8_uc002xta.1_Frame_Shift_Ins_p.K635fs|ZMYND8_uc002xtb.1_Frame_Shift_Ins_p.K655fs|ZMYND8_uc002xss.2_Frame_Shift_Ins_p.K635fs|ZMYND8_uc010zxz.1_Frame_Shift_Ins_p.K630fs|ZMYND8_uc002xtc.1_Frame_Shift_Ins_p.K655fs|ZMYND8_uc002xtd.1_Frame_Shift_Ins_p.K630fs|ZMYND8_uc002xte.1_Frame_Shift_Ins_p.K635fs|ZMYND8_uc010zya.1_Frame_Shift_Ins_p.K635fs|ZMYND8_uc002xtf.1_Frame_Shift_Ins_p.K655fs|ZMYND8_uc002xtg.3_Frame_Shift_Ins_p.K629fs|ZMYND8_uc010ghs.2_Frame_Shift_Ins_p.K629fs	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	635							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TAGGCTTGGGCTTTTTTTTAAC	0.490												
APP	351	broad.mit.edu	37	21	27394182	27394183	+	In_Frame_Ins	INS	-	-	GTG			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:27394181_27394182T>TGTG	uc002ylz.3	-	5	1039_1040	c.839_840A>CACA	c.(838-840)aca>aCACA	p.T280T	APP_uc010glk.3_In_Frame_Ins_p.T275T|APP_uc002yma.3_In_Frame_Ins_p.T280T|APP_uc011ach.2_In_Frame_Ins_p.T224T|APP_uc021whz.1_In_Frame_Ins_p.T280T|APP_uc021wia.1_In_Frame_Ins_p.T280T|APP_uc002ymb.3_In_Frame_Ins_p.T280T|APP_uc010glj.3_In_Frame_Ins_p.T224T|APP_uc021wib.1_In_Frame_Ins_p.T280T|APP_uc011aci.2_In_Frame_Ins_p.T245T|APP_uc011acj.2_In_Frame_Ins_p.T280T	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	280	Poly-Thr.				G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CCACAGACTCTgtggtggtggt	0.525												
DOPEY2	9980	broad.mit.edu	37	21	37586452	37586453	+	Frame_Shift_Ins	INS	-	-	T	rs147590869	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:37586451_37586452A>AT	uc002yvg.3	+	7	1056_1057	c.977_978A>AT	c.(976-978)tatfs	p.Y326fs	DOPEY2_uc011aeb.2_Frame_Shift_Ins_p.Y326fs	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	326					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGTCGTCTTATTTTTTTGAAA	0.396												
DYRK1A	1859	broad.mit.edu	37	21	38853059	38853060	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:38853058_38853059T>TA	uc002ywk.3	+	3	522_523	c.446_447T>TA	c.(445-447)gtafs	p.V149fs	DYRK1A_uc002ywh.1_Frame_Shift_Ins_p.V111fs|DYRK1A_uc002ywi.3_Frame_Shift_Ins_p.V149fs|DYRK1A_uc002ywj.3_Frame_Shift_Ins_p.V140fs|DYRK1A_uc002ywm.3_Frame_Shift_Ins_p.V149fs	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	149					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GATTATATTGTAAAAAACGGAG	0.376												
DSCAM	1826	broad.mit.edu	37	21	41514615	41514615	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr21:41514614_41514614CG>C	uc002yyq.1	-	17	3729	c.3277_3277CG>G	c.(3277-3279)gaafs	p.E1093fs	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1093	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAA	0.408												
TIMP3	7078	broad.mit.edu	37	22	33255321	33255321	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:33255320_33255320TG>T	uc003anb.3	+	4	1778	c.592_592TG>T	c.(592-594)tggfs	p.W198fs	SYN3_uc003amx.3_Intron|SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA.	198					negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						GTACCGAGGATGGGCCCCCCC	0.612												
TIMP3	7078	broad.mit.edu	37	22	33255324	33255325	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:33255323_33255324G>GC	uc003anb.3	+	4	1781_1782	c.595_596G>GC	c.(595-597)gccfs	p.A199fs	SYN3_uc003amx.3_Intron|SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA.	199					negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCGAGGATGGGCCCCCCCGGAT	0.604												
CELSR1	9620	broad.mit.edu	37	22	46931884	46931885	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:46931883_46931884G>GC	uc003bhw.1	-	0	1184_1185	c.1184_1185C>GC	c.(1183-1185)ggcfs	p.G395fs		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	395	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity	p.G395C(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGTCCCACGCGCCCCCCAACAC	0.683												
ALG12	79087	broad.mit.edu	37	22	50302891	50302891	+	Splice_Site	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50302890_50302890AC>A	uc003biy.3	-	6	1042	c.768_splice	c.e6+1	p.G256_splice		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	256					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		ACTGAAGGATACCCCCCAGTT	0.572												
SBF1	6305	broad.mit.edu	37	22	50898756	50898756	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chr22:50898755_50898755TG>T	uc003blh.3	-	24	3424	c.3229_3229CA>A	c.(3229-3231)agcfs	p.S1077fs	SBF1_uc011arx.2_Frame_Shift_Del_p.S741fs	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1077					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTCCCAGCTGGGGGGGTTG	0.647												
ASMTL	8623	broad.mit.edu	37	X	1522202	1522202	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:1522201_1522201AC>A	uc004cpx.2	-	12	1964	c.1827_1827GT>T	c.(1825-1827)ggtfs	p.G609fs	CRLF2_uc022brt.1_Intron|ASMTL-AS1_uc004cpv.3_Intron|ASMTL-AS1_uc004cpw.3_Intron|ASMTL_uc004cpy.2_Frame_Shift_Del_p.G593fs|ASMTL_uc011mhe.2_Frame_Shift_Del_p.G533fs|ASMTL_uc011mhf.2_Frame_Shift_Del_p.G551fs	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	609	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCCAGGACACCCCCCAAGT	0.632												
REPS2	9185	broad.mit.edu	37	X	17165605	17165605	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:17165604_17165604AC>A	uc004cxv.1	+	17	2154	c.1983_1983AC>A	c.(1981-1983)tgafs	p.*661fs	REPS2_uc004cxw.1_Frame_Shift_Del_p.*660fs|REPS2_uc011miw.1_Frame_Shift_Del_p.*459fs	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	0					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CTGTGTTGTGACCCCCCCATG	0.418												
SH3KBP1	30011	broad.mit.edu	37	X	19560215	19560215	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:19560214_19560214AG>A	uc004czm.3	-	15	2037	c.1721_1721CT>T	c.(1720-1722)ctgfs	p.L574fs	SH3KBP1_uc011mje.2_Frame_Shift_Del_p.L313fs|SH3KBP1_uc011mjf.2_Frame_Shift_Del_p.L336fs|SH3KBP1_uc004czl.3_Frame_Shift_Del_p.L537fs|SH3KBP1_uc010nfm.3_Frame_Shift_Del_p.L19fs	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	574					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						AGAGGATGACAGGGGGGAGGG	0.652												
FAM47C	442444	broad.mit.edu	37	X	37028265	37028265	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:37028264_37028264TC>T	uc004ddl.2	+	0	1833	c.1781_1781TC>T	c.(1780-1782)ctcfs	p.L594fs		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	594										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTGTCCAGTCTCCCCCCGGAG	0.647												
SLC9A7	84679	broad.mit.edu	37	X	46529070	46529070	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:46529069_46529069CA>C	uc004dgu.1	-	4	774	c.766_766TG>G	c.(766-768)ggafs	p.G256fs	SLC9A7_uc004dgv.1_Frame_Shift_Del_p.G256fs	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	256					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	p.F255fs*11(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						ATGATTGCTCCAAAAAAGAGA	0.343												
VSIG4	11326	broad.mit.edu	37	X	65253607	65253607	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:65253606_65253606CA>C	uc004dwh.2	-	1	249	c.122_122TG>G	c.(121-123)tgcfs	p.C41fs	VSIG4_uc004dwi.2_Frame_Shift_Del_p.C41fs|VSIG4_uc004dwj.3_Frame_Shift_Del_p.C41fs|VSIG4_uc011moy.2_Frame_Shift_Del_p.C41fs	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 4 (VSIG4), transcript variant 1, mRNA.	41	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding	p.C41Y(2)|p.P40P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTCATAGGTGCAGGGAAGATT	0.537												
PJA1	64219	broad.mit.edu	37	X	68382257	68382257	+	Frame_Shift_Del	DEL	A	A	-	rs145254709		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:68382256_68382256CA>C	uc022byl.1	-	0	826	c.826_826TG>G	c.(826-828)gatfs	p.D276fs	PJA1_uc004dxg.3_Intron|PJA1_uc004dxh.3_Frame_Shift_Del_p.D276fs|PJA1_uc004dxi.3_Frame_Shift_Del_p.D221fs|PJA1_uc011mpi.2_5'UTR	NM_001032396	NP_001027568	Q8NG27	PJA1_HUMAN	Homo sapiens praja ring finger 1 (PJA1), transcript variant 2, mRNA.	276	Poly-Asp.						zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TCATCAGTATCAAAAAAAATT	0.493												
FAM155B	27112	broad.mit.edu	37	X	68725613	68725614	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:68725612_68725613G>GC	uc004dxk.3	+	0	535_536	c.487_488G>GC	c.(487-489)gccfs	p.A163fs		NM_015686	NP_056501	O75949	F155B_HUMAN	Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.	163						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GACTACTCCGGCCCCCCCTCTG	0.624												
P2RY4	5030	broad.mit.edu	37	X	69478418	69478418	+	Frame_Shift_Del	DEL	G	G	-	rs149121464	byFrequency	TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:69478417_69478417TG>T	uc004dxz.1	-	0	1238	c.1058_1058CA>A	c.(1057-1059)cagfs	p.Q353fs		NM_002565	NP_002556	P51582	P2RY4_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA.	353					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GCTACTGTCCTGGGGGGTGGC	0.627												
CLDN2	9075	broad.mit.edu	37	X	106171828	106171828	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:106171827_106171827CT>C	uc022ccd.1	+	0	369	c.369_369CT>C	c.(367-369)gtcfs	p.V123fs	MORC4_uc004emp.4_Intron|CLDN2_uc004emq.1_Frame_Shift_Del_p.V123fs|CLDN2_uc022ccc.1_Frame_Shift_Del_p.V123fs|CLDN2_uc004emt.2_Frame_Shift_Del_p.V123fs	NM_020384	NP_065117	P57739	CLD2_HUMAN	Homo sapiens claudin 2 (CLDN2), transcript variant 1, mRNA.	123					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CAGGTGGAGTCTTTTTCATCC	0.542												
DOCK11	139818	broad.mit.edu	37	X	117732047	117732047	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:117732046_117732046TA>T	uc004eqp.2	+	21	2502	c.2439_2439TA>T	c.(2437-2439)attfs	p.I813fs	DOCK11_uc004eqq.2_Frame_Shift_Del_p.I579fs	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	813	DHR-1.		I -> F (in dbSNP:rs16995229).		blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGTTGAAGATTAAAAGCCACT	0.303												
LAMP2	3920	broad.mit.edu	37	X	119575705	119575705	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:119575704_119575704AG>A	uc004ess.4	-	7	1154	c.974_974CT>T	c.(973-975)ctgfs	p.L325fs	LAMP2_uc004est.4_Frame_Shift_Del_p.L325fs|LAMP2_uc011mtz.2_Frame_Shift_Del_p.L214fs|LAMP2_uc011mua.1_Frame_Shift_Del_p.L278fs|LAMP2_uc010nqp.1_Frame_Shift_Del_p.L325fs	NM_001122606	NP_001116078	P13473	LAMP2_HUMAN	Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant C, mRNA.	325	Second lumenal domain.			DAPLG -> MPP (in Ref. 1; AAA60383).	platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						AGAACTTCCCAGGGGGGCATC	0.388												
BCORL1	63035	broad.mit.edu	37	X	129190011	129190012	+	Frame_Shift_Ins	INS	-	-	C	rs137862942		TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:129190010_129190011T>TC	uc022cdu.1	+	11	5079_5080	c.5035_5036T>TC	c.(5035-5037)tccfs	p.S1679fs	BCORL1_uc004evc.2_Frame_Shift_Ins_p.S515fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1679					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGACGACAGATCCCCCCCAGGC	0.604												
MAP7D3	79649	broad.mit.edu	37	X	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:135314193_135314193TG>T	uc004ezt.3	-	7	1144	c.923_923CA>A	c.(922-924)cagfs	p.Q308fs	MAP7D3_uc004ezs.3_Frame_Shift_Del_p.Q273fs|MAP7D3_uc011mwc.2_Frame_Shift_Del_p.Q290fs|MAP7D3_uc010nsa.2_Frame_Shift_Del_p.Q266fs	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGC	0.537												
HMGB3	3149	broad.mit.edu	37	X	150156358	150156359	+	In_Frame_Ins	INS	-	-	GAG			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:150156357_150156358A>AGAG	uc004fep.3	+	4	665_666	c.573_574A>AGAG	c.(571-576)gaagag>gaAGAGag	p.191_192EE>EE	HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_In_Frame_Ins_p.191_192EE>EE	NM_005342	NP_005333	O15347	HMGB3_HUMAN	Homo sapiens high mobility group box 3 (HMGB3), mRNA.	191	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaagaagaggaggagga	0.446												
GPR50	9248	broad.mit.edu	37	X	150345219	150345219	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:150345218_150345218AC>A	uc010ntg.2	+	0	163	c.25_25AC>A	c.(25-27)accfs	p.T9fs	GPR50_uc011myc.2_Frame_Shift_Del_p.T9fs	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	9					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					AGCGGTTCCCACCCCCTATGG	0.547												
SRPK3	26576	broad.mit.edu	37	X	153050208	153050209	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153050207_153050208C>CA	uc004fik.3	+	17	3874_3875	c.1449_1450C>CA	c.(1447-1452)cacaagfs	p.H483fs	SRPK3_uc004fim.3_Frame_Shift_Ins_p.H383fs|SRPK3_uc004fil.3_Frame_Shift_Ins_p.H417fs|SRPK3_uc004fin.3_Frame_Shift_Ins_p.H416fs|SRPK3_uc010nul.3_Frame_Shift_Ins_p.H341fs	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.	417	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTCCAGCACAAGCACTTCAC	0.683												
FLNA	2316	broad.mit.edu	37	X	153594580	153594581	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8487-01A-11D-2394-08	TCGA-BR-8487-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5646c1a-3759-4bcb-8c91-1198d88b3544	cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0	g.chrX:153594579_153594580G>GC	uc004fkk.2	-	8	1490_1491	c.1241_1242C>GC	c.(1240-1242)ggcfs	p.G414fs	FLNA_uc010nuu.1_Frame_Shift_Ins_p.G414fs	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	414					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTCGACCTCGCCCGTGCCAGC	0.688												
